(used for variant description)
(last modified July 24, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_004327.3 in the BCR gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009244.1, covering BCR transcript NM_004327.3.
(upstream sequence)
. . . . . g.5056
ggggggagggtggcggctcgatgggggagccgcctccagggggcccccccgccctg c.-541
. . . . . . g.5116
tgcccacggcgcggcccctttaagaggcccgcctggctccgtcatccgcgccgcggccac c.-481
. . . . . . g.5176
ctccccccggccctccccttcctgcggcgcagagtgcgggccgggcgggagtgcggcgag c.-421
. . . . . . g.5236
agccggctggctgagcttagcgtccgaggaggcggcggcggcggcggcggcacggcggcg c.-361
. . . . . . g.5296
gcggggctgtggggcggtgcggaagcgagaggcgaggagcgcgcgggccgtggccagagt c.-301
. . . . . . g.5356
ctggcggcggcctggcggagcggagagcagcgcccgcgcctcgccgtgcggaggagcccc c.-241
. . . . . . g.5416
gcacacaatagcggcgcgcgcagcccgcgcccttccccccggcgcgccccgccccgcgcg c.-181
. . . . . . g.5476
ccgagcgccccgctccgcctcacctgccaccagggagtgggcgggcattgttcgccgccg c.-121
. . . . . . g.5536
ccgccgccgcgcgggccatgggggccgcccggcgcccggggccgggctggcgaggcgccg c.-61
. . . . . . g.5596
cgccgccgctgagacgggccccgcgcgcagcccggcggcgcaggtaaggccggccgcgcc c.-1
. . . . . . g.5656
ATGGTGGACCCGGTGGGCTTCGCGGAGGCGTGGAAGGCGCAGTTCCCGGACTCAGAGCCC c.60
M V D P V G F A E A W K A Q F P D S E P p.20
. . . . . . g.5716
CCGCGCATGGAGCTGCGCTCAGTGGGCGACATCGAGCAGGAGCTGGAGCGCTGCAAGGCC c.120
P R M E L R S V G D I E Q E L E R C K A p.40
. . . . . . g.5776
TCCATTCGGCGCCTGGAGCAGGAGGTGAACCAGGAGCGCTTCCGCATGATCTACCTGCAG c.180
S I R R L E Q E V N Q E R F R M I Y L Q p.60
. . . . . . g.5836
ACGTTGCTGGCCAAGGAAAAGAAGAGCTATGACCGGCAGCGATGGGGCTTCCGGCGCGCG c.240
T L L A K E K K S Y D R Q R W G F R R A p.80
. . . . . . g.5896
GCGCAGGCCCCCGACGGCGCCTCCGAGCCCCGAGCGTCCGCGTCGCGCCCGCAGCCAGCG c.300
A Q A P D G A S E P R A S A S R P Q P A p.100
. . . . . . g.5956
CCCGCCGACGGAGCCGACCCGCCGCCCGCCGAGGAGCCCGAGGCCCGGCCCGACGGCGAG c.360
P A D G A D P P P A E E P E A R P D G E p.120
. . . . . . g.6016
GGTTCTCCGGGTAAGGCCAGGCCCGGGACCGCCCGCAGGCCCGGGGCAGCCGCGTCGGGG c.420
G S P G K A R P G T A R R P G A A A S G p.140
. . . . . . g.6076
GAACGGGACGACCGGGGACCCCCCGCCAGCGTGGCGGCGCTCAGGTCCAACTTCGAGCGG c.480
E R D D R G P P A S V A A L R S N F E R p.160
. . . . . . g.6136
ATCCGCAAGGGCCATGGCCAGCCCGGGGCGGACGCCGAGAAGCCCTTCTACGTGAACGTC c.540
I R K G H G Q P G A D A E K P F Y V N V p.180
. . . . . . g.6196
GAGTTTCACCACGAGCGCGGCCTGGTGAAGGTCAACGACAAAGAGGTGTCGGACCGCATC c.600
E F H H E R G L V K V N D K E V S D R I p.200
. . . . . . g.6256
AGCTCCCTGGGCAGCCAGGCCATGCAGATGGAGCGCAAAAAGTCCCAGCACGGCGCGGGC c.660
S S L G S Q A M Q M E R K K S Q H G A G p.220
. . . . . . g.6316
TCGAGCGTGGGGGATGCATCCAGGCCCCCTTACCGGGGACGCTCCTCGGAGAGCAGCTGC c.720
S S V G D A S R P P Y R G R S S E S S C p.240
. . . . . . g.6376
GGCGTCGACGGCGACTACGAGGACGCCGAGTTGAACCCCCGCTTCCTGAAGGACAACCTG c.780
G V D G D Y E D A E L N P R F L K D N L p.260
. . . . . . g.6436
ATCGACGCCAATGGCGGTAGCAGGCCCCCTTGGCCGCCCCTGGAGTACCAGCCCTACCAG c.840
I D A N G G S R P P W P P L E Y Q P Y Q p.280
. . . . . . g.6496
AGCATCTACGTCGGGGGCATGATGGAAGGGGAGGGCAAGGGCCCGCTCCTGCGCAGCCAG c.900
S I Y V G G M M E G E G K G P L L R S Q p.300
. . . . . . g.6556
AGCACCTCTGAGCAGGAGAAGCGCCTTACCTGGCCCCGCAGGTCCTACTCCCCCCGGAGT c.960
S T S E Q E K R L T W P R R S Y S P R S p.320
. . . . . . g.6616
TTTGAGGATTGCGGAGGCGGCTATACCCCGGACTGCAGCTCCAATGAGAACCTCACCTCC c.1020
F E D C G G G Y T P D C S S N E N L T S p.340
. . . . . . g.6676
AGCGAGGAGGACTTCTCCTCTGGCCAGTCCAGCCGCGTGTCCCCAAGCCCCACCACCTAC c.1080
S E E D F S S G Q S S R V S P S P T T Y p.360
. . . . . . g.6736
CGCATGTTCCGGGACAAAAGCCGCTCTCCCTCGCAGAACTCGCAACAGTCCTTCGACAGC c.1140
R M F R D K S R S P S Q N S Q Q S F D S p.380
. . . . . . g.6796
AGCAGTCCCCCCACGCCGCAGTGCCATAAGCGGCACCGGCACTGCCCGGTTGTCGTGTCC c.1200
S S P P T P Q C H K R H R H C P V V V S p.400
. . . . . . g.6856
GAGGCCACCATCGTGGGCGTCCGCAAGACCGGGCAGATCTGGCCCAACGATGGCGAGGGC c.1260
E A T I V G V R K T G Q I W P N D G E G p.420
. | 02 . . . . g.78475
GCCTTCCATGGAGACGCAG | ATGGCTCGTTCGGAACACCACCTGGATACGGCTGCGCTGCA c.1320
A F H G D A D | G S F G T P P G Y G C A A p.440
. . . . . . g.78535
GACCGGGCAGAGGAGCAGCGCCGGCACCAAGATGGGCTGCCCTACATTGATGACTCGCCC c.1380
D R A E E Q R R H Q D G L P Y I D D S P p.460
. . . . . . g.78595
TCCTCATCGCCCCACCTCAGCAGCAAGGGCAGGGGCAGCCGGGATGCGCTGGTCTCGGGA c.1440
S S S P H L S S K G R G S R D A L V S G p.480
. . | 03 . . . . g.85624
GCCCTGGAGTCCACTAAAGCG | AGTGAGCTGGACTTGGAAAAGGGCTTGGAGATGAGAAAA c.1500
A L E S T K A | S E L D L E K G L E M R K p.500
. . . . . . g.85684
TGGGTCCTGTCGGGAATCCTGGCTAGCGAGGAGACTTACCTGAGCCACCTGGAGGCACTG c.1560
W V L S G I L A S E E T Y L S H L E A L p.520
| 04 . . . . . . g.86044
CTGCTG | CCCATGAAGCCTTTGAAAGCCGCTGCCACCACCTCTCAGCCGGTGCTGACGAGT c.1620
L L | P M K P L K A A A T T S Q P V L T S p.540
. . . . . . g.86104
CAGCAGATCGAGACCATCTTCTTCAAAGTGCCTGAGCTCTACGAGATCCACAAGGAGTTC c.1680
Q Q I E T I F F K V P E L Y E I H K E F p.560
. . . . . . g.86164
TATGATGGGCTCTTCCCCCGCGTGCAGCAGTGGAGCCACCAGCAGCGGGTGGGCGACCTC c.1740
Y D G L F P R V Q Q W S H Q Q R V G D L p.580
. | 05 . . . . . g.93091
TTCCAGAAGCTG | GCCAGCCAGCTGGGTGTGTACCGGGCCTTCGTGGACAACTACGGAGTT c.1800
F Q K L | A S Q L G V Y R A F V D N Y G V p.600
. . . . . . g.93151
GCCATGGAAATGGCTGAGAAGTGCTGTCAGGCCAATGCTCAGTTTGCAGAAATCTCCGAG c.1860
A M E M A E K C C Q A N A Q F A E I S E p.620
| 06 . . . . . . g.96227
| AACCTGAGAGCCAGAAGCAACAAAGATGCCAAGGATCCAACGACCAAGAACTCTCTGGAA c.1920
| N L R A R S N K D A K D P T T K N S L E p.640
| 07 . . . . . | 08 . g.98275
A | CTCTGCTCTACAAGCCTGTGGACCGTGTGACGAGGAGCACGCTGGTCCTCCAT | GACTTG c.1980
T | L L Y K P V D R V T R S T L V L H | D L p.660
. . . . . . g.98335
CTGAAGCACACTCCTGCCAGCCACCCTGACCACCCCTTGCTGCAGGACGCCCTCCGCATC c.2040
L K H T P A S H P D H P L L Q D A L R I p.680
. . . . . . g.98395
TCACAGAACTTCCTGTCCAGCATCAATGAGGAGATCACACCCCGACGGCAGTCCATGACG c.2100
S Q N F L S S I N E E I T P R R Q S M T p.700
. | 09 . . . . . g.108657
GTGAAGAAGGGAGAG | CACCGGCAGCTGCTGAAGGACAGCTTCATGGTGGAGCTGGTGGAG c.2160
V K K G E | H R Q L L K D S F M V E L V E p.720
. . . . . . g.108717
GGGGCCCGCAAGCTGCGCCACGTCTTCCTGTTCACCGACCTGCTTCTCTGCACCAAGCTC c.2220
G A R K L R H V F L F T D L L L C T K L p.740
. | 10. . . . . g.109711
AAGAAGCAGAGCGGAGG | CAAAACGCAGCAGTATGACTGCAAATGGTACATTCCGCTCACG c.2280
K K Q S G G | K T Q Q Y D C K W Y I P L T p.760
. . . . . . g.109771
GATCTCAGCTTCCAGATGGTGGATGAACTGGAGGCAGTGCCCAACATCCCCCTGGTGCCC c.2340
D L S F Q M V D E L E A V P N I P L V P p.780
. . . . . . g.109831
GATGAGGAGCTGGACGCTTTGAAGATCAAGATCTCCCAGATCAAGAATGACATCCAGAGA c.2400
D E E L D A L K I K I S Q I K N D I Q R p.800
| 11 . . . . . . g.111848
GAGAAG | AGGGCGAACAAGGGCAGCAAGGCTACGGAGAGGCTGAAGAAGAAGCTGTCGGAG c.2460
E K | R A N K G S K A T E R L K K K L S E p.820
. . . . . . g.111908
CAGGAGTCACTGCTGCTGCTTATGTCTCCCAGCATGGCCTTCAGGGTGCACAGCCGCAAC c.2520
Q E S L L L L M S P S M A F R V H S R N p.840
| 12 . . . . . . g.112786
GGCAAG | AGTTACACGTTCCTGATCTCCTCTGACTATGAGCGTGCAGAGTGGAGGGAGAAC c.2580
G K | S Y T F L I S S D Y E R A E W R E N p.860
. . | 13 . . . . g.114190
ATCCGGGAGCAGCAGAAGAAGT | GTTTCAGAAGCTTCTCCCTGACATCCGTGGAGCTGCAG c.2640
I R E Q Q K K C | F R S F S L T S V E L Q p.880
. . . . . . g.114250
ATGCTGACCAACTCGTGTGTGAAACTCCAGACTGTCCACAGCATTCCGCTGACCATCAAT c.2700
M L T N S C V K L Q T V H S I P L T I N p.900
| 14. . . . . . g.115027
AAGGAAG | ATGATGAGTCTCCGGGGCTCTATGGGTTTCTGAATGTCATCGTCCACTCAGCC c.2760
K E D | D E S P G L Y G F L N V I V H S A p.920
. . | 15 . . . . g.117214
ACTGGATTTAAGCAGAGTTCAA | ATCTGTACTGCACCCTGGAGGTGGATTCCTTTGGGTAT c.2820
T G F K Q S S N | L Y C T L E V D S F G Y p.940
. . . . . . g.117274
TTTGTGAATAAAGCAAAGACGCGCGTCTACAGGGACACAGCTGAGCCAAACTGGAACGAG c.2880
F V N K A K T R V Y R D T A E P N W N E p.960
| 16 . . . . . . g.119719
| GAATTTGAGATAGAGCTGGAGGGCTCCCAGACCCTGAGGATACTGTGCTATGAAAAGTGT c.2940
| E F E I E L E G S Q T L R I L C Y E K C p.980
. . . . . . g.119779
TACAACAAGACGAAGATCCCCAAGGAGGACGGCGAGAGCACGGACAGACTCATGGGGAAG c.3000
Y N K T K I P K E D G E S T D R L M G K p.1000
. | 17 . . . . . g.134107
GGCCAGGTCCAG | CTGGACCCGCAGGCCCTGCAGGACAGAGACTGGCAGCGCACCGTCATC c.3060
G Q V Q | L D P Q A L Q D R D W Q R T V I p.1020
. | 18 . . . . . g.135007
GCCATGAATGGG | ATCGAAGTAAAGCTCTCGGTCAAGTTCAACAGCAGGGAGTTCAGCTTG c.3120
A M N G | I E V K L S V K F N S R E F S L p.1040
. . . . . . g.135067
AAGAGGATGCCGTCCCGAAAACAGACAGGGGTCTTCGGAGTCAAGATTGCTGTGGTCACC c.3180
K R M P S R K Q T G V F G V K I A V V T p.1060
| 19 . . . . . . g.136390
AA | GAGAGAGAGGTCCAAGGTGCCCTACATCGTGCGCCAGTGCGTGGAGGAGATCGAGCGC c.3240
K | R E R S K V P Y I V R Q C V E E I E R p.1080
. . . . . . g.136450
CGAGGCATGGAGGAGGTGGGCATCTACCGCGTGTCCGGTGTGGCCACGGACATCCAGGCA c.3300
R G M E E V G I Y R V S G V A T D I Q A p.1100
. . | 20 . . . . g.137560
CTGAAGGCAGCCTTCGACGTCA | ATAACAAGGACGTGTCGGTGATGATGAGCGAGATGGAC c.3360
L K A A F D V N | N K D V S V M M S E M D p.1120
. . . . . . g.137620
GTGAACGCCATCGCAGGCACGCTGAAGCTGTACTTCCGTGAGCTGCCCGAGCCCCTCTTC c.3420
V N A I A G T L K L Y F R E L P E P L F p.1140
. . . | 21. . . g.138626
ACTGACGAGTTCTACCCCAACTTCGCAGAGGGCATCG | CTCTTTCAGACCCGGTTGCAAAG c.3480
T D E F Y P N F A E G I A | L S D P V A K p.1160
. . . . . . g.138686
GAGAGCTGCATGCTCAACCTGCTGCTGTCCCTGCCGGAGGCCAACCTGCTCACCTTCCTT c.3540
E S C M L N L L L S L P E A N L L T F L p.1180
. . | 22 . . . . g.139224
TTCCTTCTGGACCACCTGAAAAG | GGTGGCAGAGAAGGAGGCAGTCAATAAGATGTCCCTG c.3600
F L L D H L K R | V A E K E A V N K M S L p.1200
. . . . . . g.139284
CACAACCTCGCCACGGTCTTTGGCCCCACGCTGCTCCGGCCCTCCGAGAAGGAGAGCAAG c.3660
H N L A T V F G P T L L R P S E K E S K p.1220
. . . . . . g.139344
CTCCCTGCCAACCCCAGCCAGCCTATCACCATGACTGACAGCTGGTCCTTGGAGGTCATG c.3720
L P A N P S Q P I T M T D S W S L E V M p.1240
| 23 . . . . . . g.140122
TCCCAG | GTCCAGGTGCTGCTGTACTTCCTGCAGCTGGAGGCCATCCCTGCCCCGGACAGC c.3780
S Q | V Q V L L Y F L Q L E A I P A P D S p.1260
. . . g.140158
AAGAGACAGAGCATCCTGTTCTCCACCGAAGTCTAA c.3816
K R Q S I L F S T E V X p.1271
. . . . . . g.140218
aggtcccagtccatctcctggaggcggacagatggcctggaaacctctggctaatcgggc c.*60
. . . . . . g.140278
catccgtagagcgggaaccttcctgaggtgtccttgggccacccccaagtgttgggccat c.*120
. . . . . . g.140338
ctgccaagagacagcgacccaaagccgaaggacaggtggcctggaaagatcccgcccagg c.*180
. . . . . . g.140398
tctgggagccccaggctggcctcagactgtggttttttatgtggccacctgagggcgccc c.*240
. . . . . . g.140458
caagccagttcatctcggagtccaggcctggccctgggagacagggtgaagggagtggtt c.*300
. . . . . . g.140518
tttatgaacttaacttagagtctaaaagatttctactggatcacttgtcaagatgcgccc c.*360
. . . . . . g.140578
tctctggggagaagggaacgtgactggattccctcactgttgtatcttgaataaacgctg c.*420
. . . . . . g.140638
ctgcttcatcctgtgggggccgtggccctgtccctgtgtgggtggggcctcttccatttc c.*480
. . . . . . g.140698
cctgacttagaaaccacactccacttctaacagggtttgagaggcttagtcagcactggg c.*540
. . . . . . g.140758
tagcgttttgactccattcttggctttctttttctttccagaaggatttttgtgcagaaa c.*600
. . . . . . g.140818
tgggtcttttgttgccatgttagtcctccttggaaggcagctcagaaggcctgtgaaatg c.*660
. . . . . . g.140878
tcaggggacaggacccccagggagggaaccccaggctacgcactttagggttcgttctcc c.*720
. . . . . . g.140938
agggagagcgacctcgtcccccgatcctgaccgcccttccggcccacgctctcctgtttg c.*780
. . . . . . g.140998
gcttccacaggcctggacttctctggcttctctgcccacacactccctgcccccagtgtc c.*840
. . . . . . g.141058
cctgcccctgccccagcacaggtgacttcatttctgtcctctcagctcagtggactcgct c.*900
. . . . . . g.141118
caacttttgtataagtctccacttggtggcagcagcttgctgatgacttgttttaaaact c.*960
. . . . . . g.141178
ttcatcctaaataaccttttgatacttgaatatttgtaagttttatacatagtttctaat c.*1020
. . . . . . g.141238
ttttttccgaacagatccagatacctaataagatgctggaatgtaatccctggacaatcc c.*1080
. . . . . . g.141298
gtgtcctggcagcatttggtcttcctctaagcgcctggctccgctgttctcaggagtggg c.*1140
. . . . . . g.141358
ttctgaagtctctggagaacaggatacgtggagggttaggaaggggccaggcctagagac c.*1200
. . . . . . g.141418
gggagactccctcccggagcaggtggaggcacaggaccattcgctaccccatctgccgac c.*1260
. . . . . . g.141478
acctgcgggggagcccaggcattctttgtaaaccctcctgaccacctggctcaaagaaaa c.*1320
. . . . . . g.141538
cagaagcatggagaccgccaagtattttcaagaaataaccccatgaatattccatcactt c.*1380
. . . . . . g.141598
ttttagaaagaggggcttggggcaggcagaggagagaagggagagcaaactgagagccaa c.*1440
. . . . . . g.141658
gtttccacacggtcctgcaggaggagaggatgcagctgcccagagggaagcaggatcaca c.*1500
. . . . . . g.141718
tttaaggaagtgtgtggggtccctggatgacaccagcacccagtgcggctctgtctggca c.*1560
. . . . . . g.141778
cccgctcccaaggtgggaggagtgggtgtcccctgtgtgtcagtgggcagctcctgctga c.*1620
. . . . . . g.141838
acccgcagctcactagggagcctgacagtggggccatgcgcctgacactcctctctgctt c.*1680
. . . . . . g.141898
gtggacctggcaaggcagggagcagaaaacagccacttgaaggctttctgtctgcgtctg c.*1740
. . . . . . g.141958
tgtgcagtgtggatttagttgtgcttttttcttgctgggagagcacagccaccatttaca c.*1800
. . . . . . g.142018
agcagtgtcaccgtcgtgggtggcgaggacagaacaggagcctctgctctctgtacctat c.*1860
. . . . . . g.142078
ctgggcccggtgggctcccttgtcctggcttccatctctgtctcagcgaccattcagccc c.*1920
. . . . . . g.142138
tgcgcaggaacacgtgttgcttagaaaagccaaatccagccttgtctctgcctcctctgg c.*1980
. . . . . . g.142198
tctcatgatgtgcatctgttaccttgaaactggaaaccagtctatcaatgtctgtgccaa c.*2040
. . . . . . g.142258
ttttttattccctccccaacctccttccccatacgactttttatttatgtaggatgtgtg c.*2100
. . . . . . g.142318
ctgtctaatgatgggatgaccacacttttccatgttctaaaagtgctcctctcccgcagg c.*2160
. . . . . . g.142378
gtcccagggctggtggttgctttgggtctacagctacgtcttacccacctcctgcctcaa c.*2220
. . . . . . g.142438
cagcctgtgtggtggcaaagccggtgtggggctggggaacgcagcgttctccaggagggg c.*2280
. . . . . . g.142498
gacctggctctccttctgcaatgcaggcgaaggcctagatgccagtgtgacctcccacaa c.*2340
. . . . . . g.142558
ggcgtggcttccagactccccggccggaagtgatgcttttttgccttgggccctgggttt c.*2400
. . . . . . g.142618
gaagcagcctggctttctcttggtaagtggctggtgtcttagcagctgcaatctgagctc c.*2460
. . . . . g.142673
agccacctacacaccaccgtggccgacactttcattaaaaagtttcctgagacga c.*2515
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 21
©2004-2018 Leiden University Medical Center