(used for variant description)
(last modified December 30, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_032045.4 in the KREMEN1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000022.10, covering KREMEN1 transcript NM_032045.4.
(upstream sequence)
. . . . . g.5053
cgcgctgccccctttaccccgggccgcgccccggggccccgcactgacggccc c.-1
. . . . . . g.5113
ATGGCGCCGCCAGCCGCCCGCCTCGCCCTGCTCTCCGCCGCGGCGCTCACGCTGGCGGCC c.60
M A P P A A R L A L L S A A A L T L A A p.20
. . . | 02. . . g.26203
CGGCCCGCGCCTAGCCCCGGCCTCGGCCCCGGACCCG | AGTGTTTCACAGCCAATGGTGCG c.120
R P A P S P G L G P G P E | C F T A N G A p.40
. . . . . . g.26263
GATTATAGGGGAACACAGAACTGGACAGCACTACAAGGCGGGAAGCCATGTCTGTTTTGG c.180
D Y R G T Q N W T A L Q G G K P C L F W p.60
. . . . . . g.26323
AACGAGACTTTCCAGCATCCATACAACACTCTGAAATACCCCAACGGGGAGGGGGGCCTG c.240
N E T F Q H P Y N T L K Y P N G E G G L p.80
. . | 03 . . . . g.30824
GGTGAGCACAACTATTGCAG | AAATCCAGATGGAGACGTGAGCCCCTGGTGCTATGTGGCA c.300
G E H N Y C R | N P D G D V S P W C Y V A p.100
. . . . . | 04 . g.53287
GAGCACGAGGATGGTGTCTACTGGAAGTACTGTGAGATACCTGCTTGCCAGA | TGCCTGGA c.360
E H E D G V Y W K Y C E I P A C Q M | P G p.120
. . . . . . g.53347
AACCTTGGCTGCTACAAGGATCATGGAAACCCACCTCCTCTAACTGGCACCAGTAAAACG c.420
N L G C Y K D H G N P P P L T G T S K T p.140
. . . . . | 05. g.57188
TCCAACAAACTCACCATACAAACTTGCATCAGTTTTTGTCGGAGTCAGAGGTTCAAG | TTT c.480
S N K L T I Q T C I S F C R S Q R F K | F p.160
. . . . . . g.57248
GCTGGGATGGAGTCAGGCTATGCTTGCTTCTGTGGAAACAATCCTGATTACTGGAAGTAC c.540
A G M E S G Y A C F C G N N P D Y W K Y p.180
. . . . . . g.57308
GGGGAGGCAGCCAGTACCGAATGCAACAGCGTCTGCTTCGGGGATCACACCCAACCCTGT c.600
G E A A S T E C N S V C F G D H T Q P C p.200
. . . | 06 . . . g.69293
GGTGGCGATGGCAGGATCATCCTCTTTGATA | CTCTCGTGGGCGCCTGCGGTGGGAACTAC c.660
G G D G R I I L F D T | L V G A C G G N Y p.220
. . . . . . g.69353
TCAGCCATGTCTTCTGTGGTCTATTCCCCTGACTTCCCCGACACCTATGCCACGGGGAGG c.720
S A M S S V V Y S P D F P D T Y A T G R p.240
. . . . . . g.69413
GTCTGCTACTGGACCATCCGGGTTCCGGGGGCCTCCCACATCCACTTCAGCTTCCCCCTA c.780
V C Y W T I R V P G A S H I H F S F P L p.260
. . . . . . g.69473
TTTGACATCAGGGACTCGGCGGACATGGTGGAGCTTCTGGATGGCTACACCCACCGTGTC c.840
F D I R D S A D M V E L L D G Y T H R V p.280
. . . . . . g.69533
CTAGCCCGCTTCCACGGGAGGAGCCGCCCACCTCTGTCCTTCAACGTCTCTCTGGACTTC c.900
L A R F H G R S R P P L S F N V S L D F p.300
. . . . . . g.69593
GTCATCTTGTATTTCTTCTCTGATCGCATCAATCAGGCCCAGGGATTTGCTGTTTTATAC c.960
V I L Y F F S D R I N Q A Q G F A V L Y p.320
| 07 . . . . . . g.70602
CAAG | CCGTCAAGGAAGAACTGCCACAGGAGAGGCCCGCTGTCAACCAGACGGTGGCCGAG c.1020
Q A | V K E E L P Q E R P A V N Q T V A E p.340
. . . . . . g.70662
GTGATCACGGAGCAGGCCAACCTCAGTGTCAGCGCTGCCCGGTCCTCCAAAGTCCTCTAT c.1080
V I T E Q A N L S V S A A R S S K V L Y p.360
. . . . . . g.70722
GTCATCACCACCAGCCCCAGCCACCCACCTCAGACTGTCCCAGGTAGCAATTCCTGGGCG c.1140
V I T T S P S H P P Q T V P G S N S W A p.380
. . . | 08 . . . g.72230
CCACCCATGGGGGCTGGAAGCCACAGAGTTGAAG | GATGGACAGTCTATGGTCTGGCAACT c.1200
P P M G A G S H R V E G | W T V Y G L A T p.400
. . . . . | 09 g.73867
CTCCTCATCCTCACAGTCACAGCCATTGTAGCAAAGATACTTCTGCACGTCACATTCAA | A c.1260
L L I L T V T A I V A K I L L H V T F K | p.420
. . . . . . g.73927
TCCCATCGTGTTCCTGCTTCAGGGGACCTTAGGGATTGTCATCAACCAGGGACTTCGGGG c.1320
S H R V P A S G D L R D C H Q P G T S G p.440
. . . . . . g.73987
GAAATCTGGAGCATTTTTTACAAGCCTTCCACTTCAATTTCCATCTTTAAGAAGAAACTC c.1380
E I W S I F Y K P S T S I S I F K K K L p.460
. . . | 10 . . . g.98990
AAGGGTCAGAGTCAACAAGATGACCGCAATCCCCTT | GCAATTCAGGACTCGGAAGTGACA c.1440
K G Q S Q Q D D R N P L | A I Q D S E V T p.480
. . . g.99029
TCACTCATCTGGTCTCAGGGGCAGCCCAGAAGTATCTGA c.1479
S L I W S Q G Q P R S I X p.492
. . . . . . g.99089
ctgtagacacaactaggctccgtgggcatatctgggtggcaatttcagagggcagagggg c.*60
. . . . . . g.99149
acaccttcattgcctctcctcgcacagaaatggtgggctctctctggcccagcgtggtgg c.*120
. . . . . . g.99209
ttcatgcctgtaataccagcgttttgggaggctgagatgggaggattgcttgagcccagg c.*180
. . . . . . g.99269
aggtcgaggctgcagtgagctatgatcacaccaccacactccagcctgagcagcagagcg c.*240
. . . . . . g.99329
ggacctcgtctctaagaatagaaagaaagaaagagaaacggtgtcctccgcacagccggt c.*300
. . . . . . g.99389
cagaactgtgtgactcacttgaggcaggaccgagagtgacatccagttgcacctttctca c.*360
. . . . . . g.99449
cctactttgggacctttgggggtgagttcccctttgtcctctcgtggaaacagcacacag c.*420
. . . . . . g.99509
caagcaaccacaaaaccagagcggaaggagggacttcccaccggcatccggccccagtgc c.*480
. . . . . . g.99569
catgttttatcatctggaacggttgtgaagctttgtgtgacttgctcaggatcagcagtc c.*540
. . . . . . g.99629
accatggtctaatcccaagagggactcgtcacccagagacctcaaaaggccccaggccta c.*600
. . . . . . g.99689
ctgtggttttttctgagaggctcccagaaccaagtggcacgttggtttcctgtgcgtctg c.*660
. . . . . . g.99749
tgtctttgtgcctgtatctcgctgggggacttcacaggaagcaggatttgggcattcctg c.*720
. . . . . . g.99809
aagctcccagctggacaccactcctgagcgccacatcccatgatcacttcaaccacaggc c.*780
. . . . . . g.99869
ctttgactttgccacatggcaaggcacccagcagaagatgaggatgacgggtgatgctag c.*840
. . . . . . g.99929
atggatgtgtacctggtggatggcccacgcacgaagactcaagaccctcaggactggcca c.*900
. . . . . . g.99989
tataatctgcaaggtccagtatgaaataagaataagcagcccacacaactgggcatagtg c.*960
. . . . . . g.100049
gttcatgcctgtaatcccagcactttgggaggctgaggagggtggatcacttgaggccag c.*1020
. . . . . . g.100109
gaattcgagaccagcctggccaacatggcgaaaacccatctctactaaaaatacaaaaat c.*1080
. . . . . . g.100169
tagttgggcatggtggcacacacctgtaatcccagctactcggaggctgaggcacaagaa c.*1140
. . . . . . g.100229
ttgcttgaacctgggaggcggaggttgcagtgagctgagataacgccactgcactccagt c.*1200
. . g.100256
gtaggcaacagagtgagaccctgtctc c.*1227
(downstream sequence)
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