(used for variant description)
(last modified June 29, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_024027.4 in the COLEC11 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_031954.1, covering COLEC11 transcript NM_024027.4.
(upstream sequence)
g.5003
aaa c.-361
. . . . . . g.5063
aaagaaacaaaattgggatgttcgggttggagagttagcaggggcatctccaggagggtc c.-301
. . . . . . g.5123
ctgccccccaccccaaagccggcctcagggagttccaggcgttcccacactccccaggca c.-241
. . . . . . g.5183
ggacggtggacgcagcgcagacaggaagctccccgagataacgctgcggccgggcggcct c.-181
. . . . . . g.5243
gatttgctgggctgtctgatggcccgggccgaggcttctccctgcgcctgggactgcggc c.-121
. . . . . . g.5303
cgcctctctaaatagcagccatgaggcgcctgggggcagtgtcctcgcgggccagcgacg c.-61
. . . . | 02 . . g.14509
ggcaggacgccccgttcgcctagcgcgtgctcag | gagttggtgtcctgcctgcgctcagg c.-1
. . . . . . g.14569
ATGAGGGGGAATCTGGCCCTGGTGGGCGTTCTAATCAGCCTGGCCTTCCTGTCACTGCTG c.60
M R G N L A L V G V L I S L A F L S L L p.20
. . . . . . g.14629
CCATCTGGACATCCTCAGCCGGCTGGCGATGACGCCTGCTCTGTGCAGATCCTCGTCCCT c.120
P S G H P Q P A G D D A C S V Q I L V P p.40
. | 03 . . . . . g.23529
GGCCTCAAAG | GGGATGCGGGAGAGAAGGGAGACAAAGGCGCCCCCGGACGGCCTGGAAGA c.180
G L K G | D A G E K G D K G A P G R P G R p.60
. . | 04 . . . . g.47739
GTCGGCCCCACGGGAGAAAAAG | GAGACATGGGGGACAAAGGACAGAAAGGCAGTGTGGGT c.240
V G P T G E K G | D M G D K G Q K G S V G p.80
. . . | 05 . . . g.50472
CGTCATGGAAAAATTGGTCCCATTGGCTCTAAAG | GTGAGAAAGGAGATTCCGGTGACATA c.300
R H G K I G P I G S K G | E K G D S G D I p.100
. . | 06 . . . g.53644
GGACCCCCTGGTCCTAATGGAGAACCAG | GCCTCCCATGTGAGTGCAGCCAGCTGCGCAAG c.360
G P P G P N G E P G | L P C E C S Q L R K p.120
. . . . . . g.53704
GCCATCGGGGAGATGGACAACCAGGTCTCTCAGCTGACCAGCGAGCTCAAGTTCATCAAG c.420
A I G E M D N Q V S Q L T S E L K F I K p.140
| 07 . . . . . . g.53951
AATG | CTGTCGCCGGTGTGCGCGAGACGGAGAGCAAGATCTACCTGCTGGTGAAGGAGGAG c.480
N A | V A G V R E T E S K I Y L L V K E E p.160
. . . . . . g.54011
AAGCGCTACGCGGACGCCCAGCTGTCCTGCCAGGGCCGCGGGGGCACGCTGAGCATGCCC c.540
K R Y A D A Q L S C Q G R G G T L S M P p.180
. . . . . . g.54071
AAGGACGAGGCTGCCAATGGCCTGATGGCCGCATACCTGGCGCAAGCCGGCCTGGCCCGT c.600
K D E A A N G L M A A Y L A Q A G L A R p.200
. . . . . . g.54131
GTCTTCATCGGCATCAACGACCTGGAGAAGGAGGGCGCCTTCGTGTACTCTGACCACTCC c.660
V F I G I N D L E K E G A F V Y S D H S p.220
. . . . . . g.54191
CCCATGCGGACCTTCAACAAGTGGCGCAGCGGTGAGCCCAACAATGCCTACGACGAGGAG c.720
P M R T F N K W R S G E P N N A Y D E E p.240
. . . . . . g.54251
GACTGCGTGGAGATGGTGGCCTCGGGCGGCTGGAACGACGTGGCCTGCCACACCACCATG c.780
D C V E M V A S G G W N D V A C H T T M p.260
. . . g.54287
TACTTCATGTGTGAGTTTGACAAGGAGAACATGTGA c.816
Y F M C E F D K E N M X p.271
. . . . . . g.54347
gcctcaggctggggctgcccattgggggccccacatgtccctgcagggttggcagggaca c.*60
. . . . . . g.54407
gagcccagaccatggtgccagccagggagctgtccctctgtgaagggtggaggctcactg c.*120
. . . . . . g.54467
agtagagggctgttgtctaaactgagaaaatggcctatgcttaagaggaaaatgaaagtg c.*180
. . . . . . g.54527
ttcctggggtgctgtctctgaagaagcagagtttcattacctgtattgtagccccaatgt c.*240
. . . . . . g.54587
cattatgtaattattacccagaattgctcttccataaagcttgtgcctttgtccaagcta c.*300
. . . . . . g.54647
tacaataaaatctttaagtagtgcagtagttaagtccaaatagtggcaatggggtcttga c.*360
. . . . . . g.54707
attactaccttttaatttctatatggaaaagaactcactttgaccaacacttctgtaaat c.*420
. . . . . . g.54767
tacattacaatataggttccttcacactattatccatgtaaaaacaattttgctttgctt c.*480
. . . . g.54813
caaacccagatttcaggaaaacaacaacaaaattctccaaacttta c.*526
(downstream sequence)
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