(used for variant description)
(last modified January 24, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000214.2 in the JAG1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007496.1, covering JAG1 transcript NM_000214.2.
(upstream sequence)
. . . g.5036
ctgcccggcgtgctgggtagaggtggccagccccgg c.-481
. . . . . . g.5096
ccgctgctgccagacgggctctccgggtccttctccgagagccgggcgggcacgcgtcat c.-421
. . . . . . g.5156
tgtgttacctgcggccggcccgcgagctaggctggtttttttttttctcccctccctccc c.-361
. . . . . . g.5216
ccctttttccatgcagctgatctaaaagggaataaaaggctgcgcataatcataataata c.-301
. . . . . . g.5276
aaagaaggggagcgcgagagaaggaaagaaagccgggaggtggaagaggagggggagcgt c.-241
. . . . . . g.5336
ctcaaagaagcgatcagaataataaaaggaggccgggctctttgccttctggaacgggcc c.-181
. . . . . . g.5396
gctcttgaaagggcttttgaaaagtggtgttgttttccagtcgtgcatgctccaatcggc c.-121
. . . . . . g.5456
ggagtatattagagccgggacgcggcggccgcaggggcagcggcgacggcagcaccggcg c.-61
. . . . . . g.5516
gcagcaccagcgcgaacagcagcggcggcgtcccgagtgcccgcggcgcgcggcgcagcg c.-1
. . . . . . g.5576
ATGCGTTCCCCACGGACGCGCGGCCGGTCCGGGCGCCCCCTAAGCCTCCTGCTCGCCCTG c.60
M R S P R T R G R S G R P L S L L L A L p.20
. . | 02 . . . . g.6079
CTCTGTGCCCTGCGAGCCAAG | GTGTGTGGGGCCTCGGGTCAGTTCGAGTTGGAGATCCTG c.120
L C A L R A K | V C G A S G Q F E L E I L p.40
. . . . . . g.6139
TCCATGCAGAACGTGAACGGGGAGCTGCAGAACGGGAACTGCTGCGGCGGCGCCCGGAAC c.180
S M Q N V N G E L Q N G N C C G G A R N p.60
. . . . . . g.6199
CCGGGAGACCGCAAGTGCACCCGCGACGAGTGTGACACATACTTCAAAGTGTGCCTCAAG c.240
P G D R K C T R D E C D T Y F K V C L K p.80
. . . . . . g.6259
GAGTATCAGTCCCGCGTCACGGCCGGGGGGCCCTGCAGCTTCGGCTCAGGGTCCACGCCT c.300
E Y Q S R V T A G G P C S F G S G S T P p.100
. . . . . . g.6319
GTCATCGGGGGCAACACCTTCAACCTCAAGGCCAGCCGCGGCAACGACCGCAACCGCATC c.360
V I G G N T F N L K A S R G N D R N R I p.120
. . | 03. . . . g.15065
GTGCTGCCTTTCAGTTTCGCCTGGCCG | AGGTCCTATACGTTGCTTGTGGAGGCGTGGGAT c.420
V L P F S F A W P | R S Y T L L V E A W D p.140
. | 04 . . . . g.20365
TCCAGTAATGACACCGTTC | AACCTGACAGTATTATTGAAAAGGCTTCTCACTCGGGCATG c.480
S S N D T V Q | P D S I I E K A S H S G M p.160
. . . . . . g.20425
ATCAACCCCAGCCGGCAGTGGCAGACGCTGAAGCAGAACACGGGCGTTGCCCACTTTGAG c.540
I N P S R Q W Q T L K Q N T G V A H F E p.180
. . . . . . g.20485
TATCAGATCCGCGTGACCTGTGATGACTACTACTATGGCTTTGGCTGCAATAAGTTCTGC c.600
Y Q I R V T C D D Y Y Y G F G C N K F C p.200
. . . . . . g.20545
CGCCCCAGAGATGACTTCTTTGGACACTATGCCTGTGACCAGAATGGCAACAAAACTTGC c.660
R P R D D F F G H Y A C D Q N G N K T C p.220
. . . | 05 . . . g.22614
ATGGAAGGCTGGATGGGCCCCGAATGTAACAGAG | CTATTTGCCGACAAGGCTGCAGTCCT c.720
M E G W M G P E C N R A | I C R Q G C S P p.240
. . . | 06 . . . g.26473
AAGCATGGGTCTTGCAAACTCCCAGGTGACTGCAG | GTGCCAGTACGGCTGGCAAGGCCTG c.780
K H G S C K L P G D C R | C Q Y G W Q G L p.260
. . . . . . g.26533
TACTGTGATAAGTGCATCCCACACCCGGGATGCGTCCACGGCATCTGTAATGAGCCCTGG c.840
Y C D K C I P H P G C V H G I C N E P W p.280
. . . . | 07 . . g.26810
CAGTGCCTCTGTGAGACCAACTGGGGCGGCCAGCTCTGTGACAAAG | ATCTCAATTACTGT c.900
Q C L C E T N W G G Q L C D K D | L N Y C p.300
. . . . . . g.26870
GGGACTCATCAGCCGTGTCTCAACGGGGGAACTTGTAGCAACACAGGCCCTGACAAATAT c.960
G T H Q P C L N G G T C S N T G P D K Y p.320
. . . . | 08 . . g.27366
CAGTGTTCCTGCCCTGAGGGGTATTCAGGACCCAACTGTGAAATTG | CTGAGCACGCCTGC c.1020
Q C S C P E G Y S G P N C E I A | E H A C p.340
. . . . . . g.27426
CTCTCTGATCCCTGTCACAACAGAGGCAGCTGTAAGGAGACCTCCCTGGGCTTTGAGTGT c.1080
L S D P C H N R G S C K E T S L G F E C p.360
. . . . | 09 . . g.28706
GAGTGTTCCCCAGGCTGGACCGGCCCCACATGCTCTACAA | ACATTGATGACTGTTCTCCT c.1140
E C S P G W T G P T C S T N | I D D C S P p.380
. . . . . . g.28766
AATAACTGTTCCCACGGGGGCACCTGCCAGGACCTGGTTAACGGATTTAAGTGTGTGTGC c.1200
N N C S H G G T C Q D L V N G F K C V C p.400
. . . | 10 . . . g.29437
CCCCCACAGTGGACTGGGAAAACGTGCCAGTTAG | ATGCAAATGAATGTGAGGCCAAACCT c.1260
P P Q W T G K T C Q L D | A N E C E A K P p.420
. . . . . . g.29497
TGTGTAAACGCCAAATCCTGTAAGAATCTCATTGCCAGCTACTACTGCGACTGTCTTCCC c.1320
C V N A K S C K N L I A S Y Y C D C L P p.440
. . | 11 . . . g.29971
GGCTGGATGGGTCAGAATTGTGACATAA | ATATTAATGACTGCCTTGGCCAGTGTCAGAAT c.1380
G W M G Q N C D I N | I N D C L G Q C Q N p.460
. | 12 . . . . . g.30369
GACGCCTCCTGTCGG | GATTTGGTTAATGGTTATCGCTGTATCTGTCCACCTGGCTATGCA c.1440
D A S C R | D L V N G Y R C I C P P G Y A p.480
. . . . . . g.30429
GGCGATCACTGTGAGAGAGACATCGATGAATGTGCCAGCAACCCCTGTTTGAATGGGGGT c.1500
G D H C E R D I D E C A S N P C L N G G p.500
. . . . . . g.30489
CACTGTCAGAATGAAATCAACAGATTCCAGTGTCTGTGTCCCACTGGTTTCTCTGGAAAC c.1560
H C Q N E I N R F Q C L C P T G F S G N p.520
| 13 . . . . . g.30987
CTCTGTCAG | CTGGACATCGATTATTGTGAGCCTAATCCCTGCCAGAACGGTGCCCAGTGC c.1620
L C Q | L D I D Y C E P N P C Q N G A Q C p.540
. . . . . . g.31047
TACAACCGTGCCAGTGACTATTTCTGCAAGTGCCCCGAGGACTATGAGGGCAAGAACTGC c.1680
Y N R A S D Y F C K C P E D Y E G K N C p.560
. . . . | 14 . . g.31963
TCACACCTGAAAGACCACTGCCGCACGACCCCCTGTGAAG | TGATTGACAGCTGCACAGTG c.1740
S H L K D H C R T T P C E V | I D S C T V p.580
. . . . . . g.32023
GCCATGGCTTCCAACGACACACCTGAAGGGGTGCGGTATATTTCCTCCAACGTCTGTGGT c.1800
A M A S N D T P E G V R Y I S S N V C G p.600
. . . . . . g.32083
CCTCACGGGAAGTGCAAGAGTCAGTCGGGAGGCAAATTCACCTGTGACTGTAACAAAGGC c.1860
P H G K C K S Q S G G K F T C D C N K G p.620
. . | 15 . . . . g.32997
TTCACGGGAACATACTGCCATGAAA | ATATTAATGACTGTGAGAGCAACCCTTGTAGAAAC c.1920
F T G T Y C H E N | I N D C E S N P C R N p.640
. . . . . . g.33057
GGTGGCACTTGCATCGATGGTGTCAACTCCTACAAGTGCATCTGTAGTGACGGCTGGGAG c.1980
G G T C I D G V N S Y K C I C S D G W E p.660
. | 16 . . . . g.33618
GGGGCCTACTGTGAAACCA | ATATTAATGACTGCAGCCAGAACCCCTGCCACAATGGGGGC c.2040
G A Y C E T N | I N D C S Q N P C H N G G p.680
. . . . . . g.33678
ACGTGTCGCGACCTGGTCAATGACTTCTACTGTGACTGTAAAAATGGGTGGAAAGGAAAG c.2100
T C R D L V N D F Y C D C K N G W K G K p.700
. | 17 . . . . . g.33837
ACCTGCCACTCAC | GTGACAGTCAGTGTGATGAGGCCACGTGCAACAACGGTGGCACCTGC c.2160
T C H S R | D S Q C D E A T C N N G G T C p.720
. . . . . . g.33897
TATGATGAGGGGGATGCTTTTAAGTGCATGTGTCCTGGCGGCTGGGAAGGAACAACCTGT c.2220
Y D E G D A F K C M C P G G W E G T T C p.740
| 18. . . . . . g.34120
AACATAG | CCCGAAACAGTAGCTGCCTGCCCAACCCCTGCCATAATGGGGGCACATGTGTG c.2280
N I A | R N S S C L P N P C H N G G T C V p.760
. . . . . . g.34180
GTCAACGGCGAGTCCTTTACGTGCGTCTGCAAGGAAGGCTGGGAGGGGCCCATCTGTGCT c.2340
V N G E S F T C V C K E G W E G P I C A p.780
| 19 . . . | 20 . . . g.35211
CAGA | ATACCAATGACTGCAGCCCTCATCCCTG | TTACAACAGCGGCACCTGTGTGGATGGA c.2400
Q N | T N D C S P H P C | Y N S G T C V D G p.800
. . . . . | 21 g.36447
GACAACTGGTACCGGTGCGAATGTGCCCCGGGTTTTGCTGGGCCCGACTGCAGAATAA | AC c.2460
D N W Y R C E C A P G F A G P D C R I N | p.820
. . . . . . g.36507
ATCAATGAATGCCAGTCTTCACCTTGTGCCTTTGGAGCGACCTGTGTGGATGAGATCAAT c.2520
I N E C Q S S P C A F G A T C V D E I N p.840
. . . . . | 22 . g.37162
GGCTACCGGTGTGTCTGCCCTCCAGGGCACAGTGGTGCCAAGTGCCAGGAAG | TTTCAGGG c.2580
G Y R C V C P P G H S G A K C Q E V | S G p.860
. . . . . . g.37222
AGACCTTGCATCACCATGGGGAGTGTGATACCAGATGGGGCCAAATGGGATGATGACTGT c.2640
R P C I T M G S V I P D G A K W D D D C p.880
. . . . | 23 . . g.37371
AATACCTGCCAGTGCCTGAATGGACGGATCGCCTGCTCAAAG | GTCTGGTGTGGCCCTCGA c.2700
N T C Q C L N G R I A C S K | V W C G P R p.900
. . . . . . g.37431
CCTTGCCTGCTCCACAAAGGGCACAGCGAGTGCCCCAGCGGGCAGAGCTGCATCCCCATC c.2760
P C L L H K G H S E C P S G Q S C I P I p.920
. . . . . . g.37491
CTGGACGACCAGTGCTTCGTCCACCCCTGCACTGGTGTGGGCGAGTGTCGGTCTTCCAGT c.2820
L D D Q C F V H P C T G V G E C R S S S p.940
. . . . . . g.37551
CTCCAGCCGGTGAAGACAAAGTGCACCTCTGACTCCTATTACCAGGATAACTGTGCGAAC c.2880
L Q P V K T K C T S D S Y Y Q D N C A N p.960
. . . | 24 . . . g.37826
ATCACATTTACCTTTAACAAGGAGATGATGTCACCA | GGTCTTACTACGGAGCACATTTGC c.2940
I T F T F N K E M M S P | G L T T E H I C p.980
. . . . . . g.37886
AGTGAATTGAGGAATTTGAATATTTTGAAGAATGTTTCCGCTGAATATTCAATCTACATC c.3000
S E L R N L N I L K N V S A E Y S I Y I p.1000
. . . . | 25 . g.38125
GCTTGCGAGCCTTCCCCTTCAGCGAACAATGAAATACATGTGGCCATT | TCTGCTGAAGAT c.3060
A C E P S P S A N N E I H V A I | S A E D p.1020
. . . . . . g.38185
ATACGGGATGATGGGAACCCGATCAAGGAAATCACTGACAAAATAATCGATCTTGTTAGT c.3120
I R D D G N P I K E I T D K I I D L V S p.1040
. . . . . . g.38245
AAACGTGATGGAAACAGCTCGCTGATTGCTGCCGTTGCAGAAGTAAGAGTTCAGAGGCGG c.3180
K R D G N S S L I A A V A E V R V Q R R p.1060
. | 26 . . . . g.39132
CCTCTGAAGAACAGAACAG | ATTTCCTTGTTCCCTTGCTGAGCTCTGTCTTAACTGTGGCT c.3240
P L K N R T D | F L V P L L S S V L T V A p.1080
. . . . . . g.39192
TGGATCTGTTGCTTGGTGACGGCCTTCTACTGGTGCCTGCGGAAGCGGCGGAAGCCGGGC c.3300
W I C C L V T A F Y W C L R K R R K P G p.1100
. . . . . . g.39252
AGCCACACACACTCAGCCTCTGAGGACAACACCACCAACAACGTGCGGGAGCAGCTGAAC c.3360
S H T H S A S E D N T T N N V R E Q L N p.1120
. . . . . . g.39312
CAGATCAAAAACCCCATTGAGAAACATGGGGCCAACACGGTCCCCATCAAGGATTATGAG c.3420
Q I K N P I E K H G A N T V P I K D Y E p.1140
. . . . . . g.39372
AACAAGAACTCCAAAATGTCTAAAATAAGGACACACAATTCTGAAGTAGAAGAGGACGAC c.3480
N K N S K M S K I R T H N S E V E E D D p.1160
. . . . . . g.39432
ATGGACAAACACCAGCAGAAAGCCCGGTTTGCCAAGCAGCCGGCGTACACGCTGGTAGAC c.3540
M D K H Q Q K A R F A K Q P A Y T L V D p.1180
. . . . . . g.39492
AGAGAAGAGAAGCCCCCCAACGGCACGCCGACAAAACACCCAAACTGGACAAACAAACAG c.3600
R E E K P P N G T P T K H P N W T N K Q p.1200
. . . . . g.39549
GACAACAGAGACTTGGAAAGTGCCCAGAGCTTAAACCGAATGGAGTACATCGTATAG c.3657
D N R D L E S A Q S L N R M E Y I V X p.1218
. . . . . . g.39609
cagaccgcgggcactgccgccgctaggtagagtctgagggcttgtagttctttaaactgt c.*60
. . . . . . g.39669
cgtgtcatactcgagtctgaggccgttgctgacttagaatccctgtgttaatttaagttt c.*120
. . . . . . g.39729
tgacaagctggcttacactggcaatggtagtttctgtggttggctgggaaatcgagtgcc c.*180
. . . . . . g.39789
gcatctcacagctatgcaaaaagctagtcaacagtaccctggttgtgtgtccccttgcag c.*240
. . . . . . g.39849
ccgacacggtctcggatcaggctcccaggagcctgcccagccccctggtctttgagctcc c.*300
. . . . . . g.39909
cacttctgccagatgtcctaatggtgatgcagtcttagatcatagttttatttatattta c.*360
. . . . . . g.39969
ttgactcttgagttgtttttgtatattggttttatgatgacgtacaagtagttctgtatt c.*420
. . . . . . g.40029
tgaaagtgcctttgcagctcagaaccacagcaacgatcacaaatgactttattatttatt c.*480
. . . . . . g.40089
ttttttaattgtatttttgttgttgggggaggggagactttgatgtcagcagttgctggt c.*540
. . . . . . g.40149
aaaatgaagaatttaaagaaaaaaatgtcaaaagtagaactttgtatagttatgtaaata c.*600
. . . . . . g.40209
attcttttttattaatcactgtgtatatttgatttattaacttaataatcaagagcctta c.*660
. . . . . . g.40269
aaacatcattcctttttatttatatgtatgtgtttagaattgaaggtttttgatagcatt c.*720
. . . . . . g.40329
gtaagcgtatggctttatttttttgaactcttctcattacttgttgcctataagccaaaa c.*780
. . . . . . g.40389
ttaaggtgtttgaaaatagtttattttaaaacaataggatgggcttctgtgcccagaata c.*840
. . . . . . g.40449
ctgatggaatttttttgtacgacgtcagatgtttaaaacaccttctatagcatcacttaa c.*900
. . . . . . g.40509
aacacgttttaaggactgactgaggcagtttgaggattagtttagaacaggtttttttgt c.*960
. . . . . . g.40569
ttgtttgttttttgtttttctgctttagacttgaaaagagacaggcaggtgatctgctgc c.*1020
. . . . . . g.40629
agagcagtaagggaacaagttgagctatgacttaacatagccaaaatgtgagtggttgaa c.*1080
. . . . . . g.40689
tatgattaaaaatatcaaattaattgtgtgaacttggaagcacaccaatcttactttgta c.*1140
. . . . . . g.40749
aattctgatttcttttcaccattcgtacataatactgaaccacttgtagatttgattttt c.*1200
. . . . . . g.40809
ttttttaatctactgcatttagggagtattctaataagctagttgaatacttgaaccata c.*1260
. . . . . . g.40869
aaatgtccagtaagatcactgtttagatttgccatagagtacactgcctgccttaagtga c.*1320
. . . . . . g.40929
ggaaatcaaagtgctattacgaagttcaagatcaaaaaggcttataaaacagagtaatct c.*1380
. . . . . . g.40989
tgttggttcaccattgagaccgtgaagatactttgtattgtcctattagtgttatatgaa c.*1440
. . . . . . g.41049
catacaaatgcatctttgatgtgttgttcttggcaataaattttgaaaagtaatatttat c.*1500
. . . . . . g.41109
taaatttttttgtatgaaaacatggaacagtgtggcctcttctgagcttacgtagttcta c.*1560
. . . . . . g.41169
ccggctttgccatgtgcttctgccaccctgctgagtctgttctggtaatcggggtataat c.*1620
. . . . . . g.41229
aggctctgcctgacagagggatggaggaagaactgaaaggcttttcaaccacaaaactca c.*1680
. . . . . . g.41289
tctggagttctcaaagacctggggctgctgtgaagctggaactgcgggagccccatctag c.*1740
. . . . . . g.41349
gggagccttgattcccttgttattcaacagcaagtgtgaatactgcttgaataaacacca c.*1800
. g.41363
ctggattaatggcc c.*1814
(downstream sequence)
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