(used for variant description)
(last modified February 13, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_021908.2 in the ST7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering ST7 transcript NM_021908.2.
(upstream sequence)
. . . g.5034
gggacctttagagagttagcaataaggctggaga c.-181
. . . . . . g.5094
aggaaaagccggcgcgcccgcggcccgcgcgatttcccgccgagcccgcgtccccggcgg c.-121
. . . . . . g.5154
cgggcgggctccgggggcgcccgggccgcggcggcggcggcggcgcgagctgcgcctccg c.-61
. . . . . . g.5214
ggccggtgaatcatcccggcagacaccaagagccgcggcagcagagaggagcgctgaaac c.-1
. . . . . . g.5274
ATGGCTGAAGCGGCCACGGGCTTTCTGGAGCAGCTCAAGTCCTGCATAGTTTGGTCTTGG c.60
M A E A A T G F L E Q L K S C I V W S W p.20
. . . . . . g.5334
ACGTATCTGTGGACCGTGTGGTTCTTCATCGTGCTATTCCTGGTCTACATCCTGCGGGTG c.120
T Y L W T V W F F I V L F L V Y I L R V p.40
. . . | 02 . . . g.151464
CCTTTGAAAATCAACGACAACTTGAGCACAG | TGAGCATGTTTTTGAACACATTAACACCG c.180
P L K I N D N L S T V | S M F L N T L T P p.60
. . . . . | 03 . g.171240
AAGTTCTACGTGGCCCTAACAGGCACTTCCTCACTAATATCAGGGCTTATTTTG | ATATTT c.240
K F Y V A L T G T S S L I S G L I L | I F p.80
. . . . . . g.171300
GAATGGTGGTATTTTCGCAAATACGGAACTTCATTCATTGAACAAGTCTCAGTAAGCCAC c.300
E W W Y F R K Y G T S F I E Q V S V S H p.100
. . . . . . g.171360
TTGCGCCCCCTTCTGGGAGGGGTTGACAACAACTCTTCCAACAATTCTAATTCCAGTAAC c.360
L R P L L G G V D N N S S N N S N S S N p.120
. . . | 04 . . . g.181492
GGGGACTCAGATTCCAATAGGCAAAGTGTCTCAG | AATGCAAAGTATGGCGAAATCCACTA c.420
G D S D S N R Q S V S E | C K V W R N P L p.140
. . | 05 . . . g.182195
AATTTATTTAGGGGTGCTGAATACAATCG | GTATACTTGGGTGACAGGACGAGAGCCTCTT c.480
N L F R G A E Y N R | Y T W V T G R E P L p.160
. . . . . . g.182255
ACTTACTATGACATGAATCTCTCTGCCCAAGACCACCAGACATTCTTTACTTGTGACTCG c.540
T Y Y D M N L S A Q D H Q T F F T C D S p.180
. . | 06 . . . . g.183593
GACCATCTGCGTCCCGCAGATGCAA | TAATGCAGAAAGCCTGGAGAGAGAGAAACCCCCAA c.600
D H L R P A D A I | M Q K A W R E R N P Q p.200
. . . . | 07 . . g.185816
GCTAGGATTTCTGCAGCTCATGAAGCCTTGGAGATAAATGA | AATTAGGTCCAGAGTTGAA c.660
A R I S A A H E A L E I N E | I R S R V E p.220
. . . . . | 08 . g.187764
GTTCCCCTAATTGCTTCCTCTACCATCTGGGAGATAAAATTGTTACCAAA | GTGTGCAACT c.720
V P L I A S S T I W E I K L L P K | C A T p.240
. . . . . . g.187824
GCTTATATTCTCTTGGCTGAAGAGGAAGCAACAACCATTGCTGAAGCAGAAAAATTATTT c.780
A Y I L L A E E E A T T I A E A E K L F p.260
. . . . . . g.187884
AAGCAGGCCCTGAAGGCTGGAGATGGCTGTTACCGACGCTCTCAGCAGCTACAACATCAT c.840
K Q A L K A G D G C Y R R S Q Q L Q H H p.280
. . | 09 . . . . g.190143
GGATCCCAGTATGAAGCCCAACATA | GACGAGACACCAATGTCTTGGTGTACATCAAAAGA c.900
G S Q Y E A Q H R | R D T N V L V Y I K R p.300
. . . . . . g.190203
AGGCTAGCAATGTGTGCCAGAAGACTCGGGAGGACCAGGGAAGCAGTGAAAATGATGAGA c.960
R L A M C A R R L G R T R E A V K M M R p.320
| 10 . . . . . . g.222592
GAT | TTAATGAAGGAGTTCCCCCTTCTGAGTATGTTCAATATCCATGAAAACCTTTTAGAA c.1020
D | L M K E F P L L S M F N I H E N L L E p.340
. . . . . | 11 g.240996
GCCCTTCTGGAACTACAAGCATATGCTGATGTTCAGGCAGTCTTAGCAAAGTATGATG | AT c.1080
A L L E L Q A Y A D V Q A V L A K Y D D | p.360
. . . . . . g.241056
ATAAGCTTACCAAAGTCAGCAACAATATGCTACACAGCTGCTTTGCTCAAAGCAAGAGCT c.1140
I S L P K S A T I C Y T A A L L K A R A p.380
. | 12 . . . . . g.242556
GTCTCTGACAA | ATTCTCTCCTGAGGCTGCATCTCGGCGGGGGCTGAGCACAGCAGAGATG c.1200
V S D K | F S P E A A S R R G L S T A E M p.400
. . . . . | 13 . g.261466
AATGCAGTAGAGGCCATTCATAGAGCTGTGGAATTCAATCCTCATGTGCCAAAA | TACCTA c.1260
N A V E A I H R A V E F N P H V P K | Y L p.420
. . . . . . g.261526
CTAGAAATGAAAAGCTTAATCCTACCCCCAGAACATATCCTGAAGAGAGGAGACAGTGAA c.1320
L E M K S L I L P P E H I L K R G D S E p.440
. . . . . . g.261586
GCAATAGCATATGCATTCTTTCATCTTGCACACTGGAAGAGAGTGGAAGGGGCTTTGAAT c.1380
A I A Y A F F H L A H W K R V E G A L N p.460
. . | 14 . . . . g.270792
CTTTTGCATTGTACGTGGGAAGGCA | CTTTTCGGATGATCCCTTATCCCTTGGAAAAGGGG c.1440
L L H C T W E G T | F R M I P Y P L E K G p.480
. . . . . | 15 g.273598
CACCTATTTTATCCTTACCCAATCTGTACAGAAACAGCAGACCGAGAGCTGCTTCCAT | CT c.1500
H L F Y P Y P I C T E T A D R E L L P S | p.500
. . . . . . g.273658
TTCCATGAAGTCTCAGTTTACCCAAAGAAGGAGCTTCCCTTCTTTATTCTCTTTACTGCT c.1560
F H E V S V Y P K K E L P F F I L F T A p.520
. . . . . . g.273718
GGATTATGTTCCTTCACAGCCATGCTGGCCCTCCTGACACATCAGTTCCCGGAACTTATG c.1620
G L C S F T A M L A L L T H Q F P E L M p.540
. | 16 . . . . g.274576
GGGGTCTTCGCAAAAGCT | ATGATTGACATTTTCTGCTCGGCAGAGTTCAGGGACTGGAAT c.1680
G V F A K A | M I D I F C S A E F R D W N p.560
. . . . . . g.274636
TGCAAGAGTATTTTCATGCGTGTTGAAGATGAACTGGAAATCCCTCCGGCACCTCAATCT c.1740
C K S I F M R V E D E L E I P P A P Q S p.580
. g.274654
CAACATTTCCAAAACTGA c.1758
Q H F Q N X p.585
. . . . . . g.274714
actcatcacccctcttcccccaccaccaaaactgctcctcctcctgtattcctgacctcc c.*60
. . . . . . g.274774
gccatccaccccgttgctcaagccggaaactcggcagcccttccaaactcttccctctct c.*120
. . . . . . g.274834
cactccccacatcccatcgtctcggccttcacaatctgtcagttctaacctcctaagcaa c.*180
. . . . . . g.274894
ctaggccttcagtaaatgtgattcacctcttctttccctccttttcccaaagcatccctc c.*240
. . . . . . g.274954
ttagtctaggtccttgttgtttcttgcctgaactcctgccatagtcttaactggtctcct c.*300
. . . . . . g.275014
tgcttcctgtcttatcctccaccgtctttcttttatactgacacaagaatggtctttctg c.*360
. . . . . . g.275074
aattgcacatgtgagcatgtcacttccctgcttaaatttctccagtggattcccagggac c.*420
. . . . . . g.275134
ttcaggatcaagtcctagttgttcagcatggcatccaagactctttatgatctggccctt c.*480
. . . . . . g.275194
gcttacctctcagccttagctctcccaactcttgcacagtcactgctcttcagccatagt c.*540
. . . . . . g.275254
ggatcactcaccattcccagatgtaccaggctctcgcacacctctgcacctttgcacgtg c.*600
. . . . . . g.275314
ctgtttgctgtgcgtggaatgcccttcactgtcaccaccctgctcatccactctactaat c.*660
. . . . . . g.275374
gcctcttcattcttttatactcagctttctttaaagttcttctaagctgagttaggtgtc c.*720
. . . . . . g.275434
tgtcctttatgatcccgcagtattccatgaatacgtatattctcacatttattgtactgt c.*780
. . . . . . g.275494
attataattgttgaaaacttgtctgtcccatttagaatgtgagctccttgagagcagaac c.*840
. . . . . . g.275554
ggtgtcttcattatctctgtatccccaaggctttgcacagtgccttgctcatagtaggtt c.*900
. . g.275581
ttcaataaatgattattaaataaataa c.*927
(downstream sequence)
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