Canonical Allele Identifier: CA485832199
Gene: COCH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.30885410_30885413dup , CM000676.2:g.30885410_30885413dup GRCh38
NC_000014.8:g.31354616_31354619dup , CM000676.1:g.31354616_31354619dup GRCh37
NC_000014.7:g.30424367_30424370dup NCBI36
NG_008211.2:g.15876_15879dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000216361.9:c.945_948dup ENSP00000216361.5:p.Ala317TyrfsTer25
ENST00000396618.9:c.750_753dup MANE Select ENSP00000379862.3:p.Ala252TyrfsTer25
ENST00000555117.2:c.807_810dup ENSP00000493569.1:p.Ala271TyrfsTer25
ENST00000643575.1:c.750_753dup ENSP00000494838.1:p.Ala252TyrfsTer25
ENST00000643697.1:n.1052_1055dup
ENST00000644874.2:c.750_753dup ENSP00000496360.1:p.Ala252TyrfsTer25
ENST00000216361.8:c.750_753dup ENSP00000216361.4:p.Ala252TyrfsTer25
ENST00000396618.7:c.750_753dup ENSP00000379862.3:p.Ala252TyrfsTer25
ENST00000460581.6:c.414_417dup ENSP00000451713.1:p.Ala140TyrfsTer25
ENST00000468826.2:c.401_404dup
ENST00000475087.5:c.750_753dup ENSP00000451528.1:p.Ala252TyrfsTer25
ENST00000555881.5:c.396_399dup ENSP00000452569.1:p.Ala134TyrfsTer25
ENST00000557065.1:c.532_535dup ENSP00000451629.1:n.532_535dup
NM_001135058.1:c.750_753dup NP_001128530.1:p.Ala252TyrfsTer25
NM_004086.2:c.750_753dup NP_004077.1:p.Ala252TyrfsTer25
NR_038356.1:n.1452_1452+3dup
XM_011536539.1:c.750_753dup XP_011534841.1:p.Ala252TyrfsTer25
NM_001347720.1:c.945_948dup NP_001334649.1:p.Ala317TyrfsTer25
XM_017021071.1:c.945_948dup XP_016876560.1:p.Ala317TyrfsTer25
XM_024449506.1:c.807_810dup XP_024305274.1:p.Ala271TyrfsTer25
NM_004086.3:c.750_753dup MANE Select NP_004077.1:p.Ala252TyrfsTer25
NM_001135058.2:c.750_753dup NP_001128530.1:p.Ala252TyrfsTer25
NM_001347720.2:c.945_948dup NP_001334649.1:p.Ala317TyrfsTer25