(used for variant description)
(last modified November 25, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_018849.2 in the ABCB4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007118.1, covering ABCB4 transcript NM_018849.2.
(upstream sequence)
. g.9745
caaagtccaggcccct c.-61
. . . . . . | 02 g.9967
ctgctgcagcgcccgcgcgtccagaggccctgccagacacgcgcgaggttcgag | gctgag c.-1
. . . . . . g.10027
ATGGATCTTGAGGCGGCAAAGAACGGAACAGCCTGGCGCCCCACGAGCGCGGAGGGCGAC c.60
M D L E A A K N G T A W R P T S A E G D p.20
. . | 03 . . . . g.12797
TTTGAACTGGGCATCAGCAG | CAAACAAAAAAGGAAAAAAACGAAGACAGTGAAAATGATT c.120
F E L G I S S | K Q K R K K T K T V K M I p.40
. | 04 . . . . . g.22569
GGAGTATTAACATTG | TTTCGATACTCCGATTGGCAGGATAAATTGTTTATGTCGCTGGGT c.180
G V L T L | F R Y S D W Q D K L F M S L G p.60
. . . . . . g.22629
ACCATCATGGCCATAGCTCACGGATCAGGTCTCCCCCTCATGATGATAGTATTTGGAGAG c.240
T I M A I A H G S G L P L M M I V F G E p.80
. . . . | 05 . . g.30854
ATGACTGACAAATTTGTTGATACTGCAGGAAACTTCTCCTTTCCAG | TGAACTTTTCCTTG c.300
M T D K F V D T A G N F S F P V | N F S L p.100
. . . . | 06 . . g.32313
TCGCTGCTAAATCCAGGCAAAATTCTGGAAGAAGAAATGACTAG | ATATGCATATTACTAC c.360
S L L N P G K I L E E E M T R | Y A Y Y Y p.120
. . . . . . g.32373
TCAGGATTGGGTGCTGGAGTTCTTGTTGCTGCCTATATACAAGTTTCATTTTGGACTTTG c.420
S G L G A G V L V A A Y I Q V S F W T L p.140
. . . . . . g.32433
GCAGCTGGTCGACAGATCAGGAAAATTAGGCAGAAGTTTTTTCATGCTATTCTACGACAG c.480
A A G R Q I R K I R Q K F F H A I L R Q p.160
. . . . . | 07 . g.33642
GAAATAGGATGGTTTGACATCAACGACACCACTGAACTCAATACGCGGCTAACAGA | TGAC c.540
E I G W F D I N D T T E L N T R L T D | D p.180
. . . . . . g.33702
ATCTCCAAAATCAGTGAAGGAATTGGTGACAAGGTTGGAATGTTCTTTCAAGCAGTAGCC c.600
I S K I S E G I G D K V G M F F Q A V A p.200
. . . . . . g.33762
ACGTTTTTTGCAGGATTCATAGTGGGATTCATCAGAGGATGGAAGCTCACCCTTGTGATA c.660
T F F A G F I V G F I R G W K L T L V I p.220
. . . . | 08 . g.35352
ATGGCCATCAGCCCTATTCTAGGACTCTCTGCAGCCGTTTGGGCAAAG | ATACTCTCGGCA c.720
M A I S P I L G L S A A V W A K | I L S A p.240
. . . . . . g.35412
TTTAGTGACAAAGAACTAGCTGCTTATGCAAAAGCAGGCGCCGTGGCAGAAGAGGCTCTG c.780
F S D K E L A A Y A K A G A V A E E A L p.260
. . . . . | 09 . g.38234
GGGGCCATCAGGACTGTGATAGCTTTCGGGGGCCAGAACAAAGAGCTGGAAAG | GTATCAG c.840
G A I R T V I A F G G Q N K E L E R | Y Q p.280
. . . . . . g.38294
AAACATTTAGAAAATGCCAAAGAGATTGGAATTAAAAAAGCTATTTCAGCAAACATTTCC c.900
K H L E N A K E I G I K K A I S A N I S p.300
. . . . . . g.38354
ATGGGTATTGCCTTCCTGTTAATATATGCATCATATGCACTGGCCTTCTGGTATGGATCC c.960
M G I A F L L I Y A S Y A L A F W Y G S p.320
. . . . | 10 . . g.40472
ACTCTAGTCATATCAAAAGAATATACTATTGGAAATGCAATGACA | GTTTTTTTTTCAATC c.1020
T L V I S K E Y T I G N A M T | V F F S I p.340
. . . . . . g.40532
CTAATTGGAGCTTTCAGTGTTGGCCAGGCTGCCCCATGTATTGATGCTTTTGCCAATGCA c.1080
L I G A F S V G Q A A P C I D A F A N A p.360
. . . | 11 . . g.41680
AGAGGAGCAGCATATGTGATCTTTGATATTATTGATAAT | AATCCTAAAATTGACAGTTTT c.1140
R G A A Y V I F D I I D N | N P K I D S F p.380
. . . . . . g.41740
TCAGAGAGAGGACACAAACCAGACAGCATCAAAGGGAATTTGGAGTTCAATGATGTTCAC c.1200
S E R G H K P D S I K G N L E F N D V H p.400
. . . | 12 . . . g.42018
TTTTCTTACCCTTCTCGAGCTAACGTCAAG | ATCTTGAAGGGCCTCAACCTGAAGGTGCAG c.1260
F S Y P S R A N V K | I L K G L N L K V Q p.420
. . . . . . g.42078
AGTGGGCAGACGGTGGCCCTGGTTGGAAGTAGTGGCTGTGGGAAGAGCACAACGGTCCAG c.1320
S G Q T V A L V G S S G C G K S T T V Q p.440
. . . | 13 . . . g.45054
CTGATACAGAGGCTCTATGACCCTGATGAGGGCACA | ATTAACATTGATGGGCAGGATATT c.1380
L I Q R L Y D P D E G T | I N I D G Q D I p.460
. . . . . . g.45114
AGGAACTTTAATGTAAACTATCTGAGGGAAATCATTGGTGTGGTGAGTCAGGAGCCGGTG c.1440
R N F N V N Y L R E I I G V V S Q E P V p.480
. . . . . . g.45174
CTGTTTTCCACCACAATTGCTGAAAATATTTGTTATGGCCGTGGAAATGTAACCATGGAT c.1500
L F S T T I A E N I C Y G R G N V T M D p.500
. . . . . . g.45234
GAGATAAAGAAAGCTGTCAAAGAGGCCAACGCCTATGAGTTTATCATGAAATTACCACAG c.1560
E I K K A V K E A N A Y E F I M K L P Q p.520
| 14 . . . . . . g.45655
| AAATTTGACACCCTGGTTGGAGAGAGAGGGGCCCAGCTGAGTGGTGGGCAGAAGCAGAGG c.1620
| K F D T L V G E R G A Q L S G G Q K Q R p.540
. . . . . . g.45715
ATCGCCATTGCACGTGCCCTGGTTCGCAACCCCAAGATCCTTCTGCTGGATGAGGCCACG c.1680
I A I A R A L V R N P K I L L L D E A T p.560
. . . . . | 15 . g.53876
TCAGCATTGGACACAGAAAGTGAAGCTGAGGTACAGGCAGCTCTGGATAAG | GCCAGAGAA c.1740
S A L D T E S E A E V Q A A L D K | A R E p.580
. . . . . . g.53936
GGCCGGACCACCATTGTGATAGCACACCGACTGTCTACGGTCCGAAATGCAGATGTCATC c.1800
G R T T I V I A H R L S T V R N A D V I p.600
. . . . . . g.53996
GCTGGGTTTGAGGATGGAGTAATTGTGGAGCAAGGAAGCCACAGCGAACTGATGAAGAAG c.1860
A G F E D G V I V E Q G S H S E L M K K p.620
. . . | 16 . . . g.58539
GAAGGGGTGTACTTCAAACTTGTCAACATGCAG | ACATCAGGAAGCCAGATCCAGTCAGAA c.1920
E G V Y F K L V N M Q | T S G S Q I Q S E p.640
. . . . . . g.58599
GAATTTGAACTAAATGATGAAAAGGCTGCCACTAGAATGGCCCCAAATGGCTGGAAATCT c.1980
E F E L N D E K A A T R M A P N G W K S p.660
. . . . . . g.58659
CGCCTATTTAGGCATTCTACTCAGAAAAACCTTAAAAATTCACAAATGTGTCAGAAGAGC c.2040
R L F R H S T Q K N L K N S Q M C Q K S p.680
. . | 17 . . . . g.61416
CTTGATGTGGAAACCGATGGACTT | GAAGCAAATGTGCCACCAGTGTCCTTTCTGAAGGTC c.2100
L D V E T D G L | E A N V P P V S F L K V p.700
. . . . . . g.61476
CTGAAACTGAATAAAACAGAATGGCCCTACTTTGTCGTGGGAACAGTATGTGCCATTGCC c.2160
L K L N K T E W P Y F V V G T V C A I A p.720
. . . . . | 18 . g.63216
AATGGGGGGCTTCAGCCGGCATTTTCAGTCATATTCTCAGAGATCATAGCG | ATTTTTGGA c.2220
N G G L Q P A F S V I F S E I I A | I F G p.740
. . . . . . g.63276
CCAGGCGATGATGCAGTGAAGCAGCAGAAGTGCAACATATTCTCTTTGATTTTCTTATTT c.2280
P G D D A V K Q Q K C N I F S L I F L F p.760
. . . | 19 . . . g.65381
CTGGGAATTATTTCTTTTTTTACTTTCTTCCTTCAG | GGTTTCACGTTTGGGAAAGCTGGC c.2340
L G I I S F F T F F L Q | G F T F G K A G p.780
. . . . . | 20 . g.66818
GAGATCCTCACCAGAAGACTGCGGTCAATGGCTTTTAAAGCAATGCTAAGACAG | GACATG c.2400
E I L T R R L R S M A F K A M L R Q | D M p.800
. . . . . . g.66878
AGCTGGTTTGATGACCATAAAAACAGTACTGGTGCACTTTCTACAAGACTTGCCACAGAT c.2460
S W F D D H K N S T G A L S T R L A T D p.820
. | 21 . . . . g.67959
GCTGCCCAAGTCCAAGGA | GCCACAGGAACCAGGTTGGCTTTAATTGCACAGAATATAGCT c.2520
A A Q V Q G | A T G T R L A L I A Q N I A p.840
. . . . . . g.68019
AACCTTGGAACTGGTATTATCATATCATTTATCTACGGTTGGCAGTTAACCCTATTGCTA c.2580
N L G T G I I I S F I Y G W Q L T L L L p.860
. . . . . . g.68079
TTAGCAGTTGTTCCAATTATTGCTGTGTCAGGAATTGTTGAAATGAAATTGTTGGCTGGA c.2640
L A V V P I I A V S G I V E M K L L A G p.880
. . . . | 22 . . g.71733
AATGCCAAAAGAGATAAAAAAGAACTGGAAGCTGCTGGAAAG | ATTGCAACAGAGGCAATA c.2700
N A K R D K K E L E A A G K | I A T E A I p.900
. . . . . . g.71793
GAAAATATTAGGACAGTTGTGTCTTTGACCCAGGAAAGAAAATTTGAATCAATGTATGTT c.2760
E N I R T V V S L T Q E R K F E S M Y V p.920
. . | 23 . . . . g.73436
GAAAAATTGTATGGACCTTACAG | GAATTCTGTGCAGAAGGCACACATCTATGGAATTACT c.2820
E K L Y G P Y R | N S V Q K A H I Y G I T p.940
. . . . . . g.73496
TTTAGTATCTCACAAGCATTTATGTATTTTTCCTATGCCGGTTGTTTTCGATTTGGTGCA c.2880
F S I S Q A F M Y F S Y A G C F R F G A p.960
. . . . | 24 . . g.76056
TATCTCATTGTGAATGGACATATGCGCTTCAGAGATGTTATTCT | GGTGTTTTCTGCAATT c.2940
Y L I V N G H M R F R D V I L | V F S A I p.980
. . . . . . g.76116
GTATTTGGTGCAGTGGCTCTAGGACATGCCAGTTCATTTGCTCCAGACTATGCTAAAGCT c.3000
V F G A V A L G H A S S F A P D Y A K A p.1000
. . . . . . g.76176
AAGCTGTCTGCAGCCCACTTATTCATGCTGTTTGAAAGACAACCTCTGATTGACAGCTAC c.3060
K L S A A H L F M L F E R Q P L I D S Y p.1020
. . | 25 . . . . g.77237
AGTGAAGAGGGGCTGAAGCCT | GATAAATTTGAAGGAAATATAACATTTAATGAAGTCGTG c.3120
S E E G L K P | D K F E G N I T F N E V V p.1040
. . . . . . g.77297
TTCAACTATCCCACCCGAGCAAACGTGCCAGTGCTTCAGGGGCTGAGCCTGGAGGTGAAG c.3180
F N Y P T R A N V P V L Q G L S L E V K p.1060
. . . . . . g.77357
AAAGGCCAGACACTAGCCCTGGTGGGCAGCAGTGGCTGTGGGAAGAGCACGGTGGTCCAG c.3240
K G Q T L A L V G S S G C G K S T V V Q p.1080
. . . | 26 . . g.78938
CTCCTGGAGCGGTTCTACGACCCCTTGGCGGGGACAGTG | TTTGTGGACTTTGGTTTTCAG c.3300
L L E R F Y D P L A G T V | F V D F G F Q p.1100
. . . . . . g.78998
CTTCTCGATGGTCAAGAAGCAAAGAAACTCAATGTCCAGTGGCTCAGAGCTCAACTCGGA c.3360
L L D G Q E A K K L N V Q W L R A Q L G p.1120
. . . . . . g.79058
ATCGTGTCTCAGGAGCCTATCCTATTTGACTGCAGCATTGCCGAGAATATTGCCTATGGA c.3420
I V S Q E P I L F D C S I A E N I A Y G p.1140
. . . . . . g.79118
GACAACAGCCGGGTTGTATCACAGGATGAAATTGTGAGTGCAGCCAAAGCTGCCAACATA c.3480
D N S R V V S Q D E I V S A A K A A N I p.1160
. . | 27. . . . g.82184
CATCCTTTCATCGAGACGTTACCCCAC | AAATATGAAACAAGAGTGGGAGATAAGGGGACT c.3540
H P F I E T L P H | K Y E T R V G D K G T p.1180
. . . . . . g.82244
CAGCTCTCAGGAGGTCAAAAACAGAGGATTGCTATTGCCCGAGCCCTCATCAGACAACCT c.3600
Q L S G G Q K Q R I A I A R A L I R Q P p.1200
. . . . . | 28 . g.83136
CAAATCCTCCTGTTGGATGAAGCTACATCAGCTCTGGATACTGAAAGTGAAAAG | GTTGTC c.3660
Q I L L L D E A T S A L D T E S E K | V V p.1220
. . . . . . g.83196
CAAGAAGCCCTGGACAAAGCCAGAGAAGGCCGCACCTGCATTGTGATTGCTCACCGCCTG c.3720
Q E A L D K A R E G R T C I V I A H R L p.1240
. . . . . . g.83256
TCCACCATCCAGAATGCAGACTTAATAGTGGTGTTTCAGAATGGGAGAGTCAAGGAGCAT c.3780
S T I Q N A D L I V V F Q N G R V K E H p.1260
. . . . . . g.83316
GGCACGCATCAGCAGCTGCTGGCACAGAAAGGCATCTATTTTTCAATGGTCAGTGTCCAG c.3840
G T H Q Q L L A Q K G I Y F S M V S V Q p.1280
. . g.83337
GCTGGGACACAGAACTTATGA c.3861
A G T Q N L X p.1286
. . . . . g.83388
acttttgctacagtatattttaaaaataaattcaaattattctaccatttt c.*51
(downstream sequence)
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