(used for variant description)
(last modified June 16, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000327.3 in the ROM1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009845.1, covering ROM1 transcript NM_000327.3.
(upstream sequence)
g.5001
a c.-541
. . . . . . g.5061
caaacaggcgccggacgcggagccgccaggaagcgcgggagggggggcgggcccgagggg c.-481
. . . . . . g.5121
gggccgggccgcttggtaacccctccctgtccgggcctcgccgctcagtacgggggcggg c.-421
. . . . . . g.5181
gctagccggctgaccccctggcctactcccggcctccggctccaggcccttcccggatcc c.-361
. . . . . . g.5241
ccgcccccggattcccaggggacggggaagggagcgcccgccccgatatctccgcccccc c.-301
. . . . . . g.5301
agcccctaacccctcagggttgagcggaccaaccccaccacttccgcgaggggcaggggc c.-241
. . . . . . g.5361
ggggtcacaaaacgggccctcggcctaggggcggagtttctcgtaaggggcaaggccaag c.-181
. . . . . . g.5421
gcatcttgtattggggctgacaggggggcgggttattagggctgaggatgggaggatgct c.-121
. . . . . . g.5481
cagggtattggggtcagggtggcattagcccagctcaagccgggccgggctgactcagca c.-61
. . . . . . g.5541
tcctgccccagccagcttccatccctgacacctctgcactcccttgggcagagatgggag c.-1
. . . . . . g.5601
ATGGCGCCGGTGTTGCCCCTGGTGCTGCCCCTGCAGCCCCGCATCCGCCTGGCACAAGGG c.60
M A P V L P L V L P L Q P R I R L A Q G p.20
. . . . . . g.5661
CTCTGGCTCCTCTCCTGGCTGCTGGCGCTGGCTGGTGGCGTCATCCTCCTCTGTAGTGGG c.120
L W L L S W L L A L A G G V I L L C S G p.40
. . . . . . g.5721
CACCTCCTGGTCCAGCTAAGGCACCTTGGCACCTTCCTGGCTCCCTCCTGTCAGTTCCCT c.180
H L L V Q L R H L G T F L A P S C Q F P p.60
. . . . . . g.5781
GTCCTGCCCCAGGCTGCCCTGGCAGCGGGCGCGGTGGCTCTGGGCACAGGACTAGTGGGT c.240
V L P Q A A L A A G A V A L G T G L V G p.80
. . . . . . g.5841
GTAGGAGCCAGCCGGGCAAGTCTGAATGCAGCTCTATACCCTCCCTGGCGAGGGGTCCTG c.300
V G A S R A S L N A A L Y P P W R G V L p.100
. . . . . . g.5901
GGCCCGCTGCTGGTGGCTGGCACGGCTGGTGGGGGGGGGCTCCTGGTCGTCGCCCTCGGG c.360
G P L L V A G T A G G G G L L V V A L G p.120
. . . . . . g.5961
CTAGCCCTGGCTTTGCCTGGGAGTCTGGATGAGGCGCTGGAGGAGGGCCTGGTGACTGCC c.420
L A L A L P G S L D E A L E E G L V T A p.140
. . . . . . g.6021
TTGGCTCACTACAAGGACACAGAGGTGCCTGGGCACTGTCAGGCCAAAAGGCTGGTGGAT c.480
L A H Y K D T E V P G H C Q A K R L V D p.160
. . . . . . g.6081
GAGCTGCAACTGAGGTACCACTGCTGCGGGCGCCACGGGTACAAGGATTGGTTTGGGGTC c.540
E L Q L R Y H C C G R H G Y K D W F G V p.180
. . . . . | 02 . g.6527
CAGTGGGTCAGCAGCCGTTACCTGGATCCCGGTGACCGGGATGTGGCTGA | CCGGATCCAG c.600
Q W V S S R Y L D P G D R D V A D | R I Q p.200
. . . . . . g.6587
AGCAATGTAGAAGGCCTATACCTGACTGATGGGGTCCCTTTCTCCTGTTGCAACCCCCAC c.660
S N V E G L Y L T D G V P F S C C N P H p.220
. . . . . . g.6647
TCACCCCGGCCTTGCCTGCAAAACCGTCTTTCAGACTCCTACGCCCACCCCCTGTTCGAT c.720
S P R P C L Q N R L S D S Y A H P L F D p.240
. . . . . . g.6707
CCCCGACAACCCAACCAAAACCTCTGGGCCCAAGGGTGCCATGAGGTGCTGCTGGAGCAC c.780
P R Q P N Q N L W A Q G C H E V L L E H p.260
. . . . . | 03. g.6883
TTGCAGGACTTGGCAGGCACACTGGGTAGCATGCTGGCTGTCACCTTCCTACTGCAG | GCT c.840
L Q D L A G T L G S M L A V T F L L Q | A p.280
. . . . . . g.6943
CTGGTGCTCCTTGGCCTGCGGTACCTGCAAACAGCACTGGAGGGGCTTGGAGGGGTCATT c.900
L V L L G L R Y L Q T A L E G L G G V I p.300
. . . . . . g.7003
GATGCGGGAGGAGAGACCCAGGGCTATCTCTTTCCCAGTGGGCTGAAAGATATGCTGAAA c.960
D A G G E T Q G Y L F P S G L K D M L K p.320
. . . . . . g.7063
ACAGCATGGCTACAGGGAGGGGTTGCCTGCAGGCCAGCACCTGAGGAGGCCCCACCAGGA c.1020
T A W L Q G G V A C R P A P E E A P P G p.340
. . . g.7099
GAAGCACCTCCCAAGGAGGATCTATCTGAGGCCTAG c.1056
E A P P K E D L S E A X p.351
. . . . . . g.7159
aggcctggagcttggggtgaggaagagggagggatggacaagtctgaaaacctcacaact c.*60
. . . . . . g.7219
ccttaccaaggctccaggttggggggatcgtaggattagaggggctaaggatagtcagcg c.*120
. . . . . . g.7279
agctggactggggtaagaaagaaaaccagatgtcctagggcctagcccttgtagtcagaa c.*180
. . . . . . g.7339
ccaccagggaacagcaaagaacagagtgatgggaaagtgacatgagaaggcctggaggct c.*240
. . . . g.7380
gattctgatatagactcaataaagtttttggatggaagcaa c.*281
(downstream sequence)
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