Canonical Allele Identifier: CA2624448425

Gene: COCH

Linked Data

• gnomAD v4: 14-30885496-CTGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885500_30885502del , CM000676.2:g.30885500_30885502del	GRCh38
NC_000014.8:g.31354706_31354708del , CM000676.1:g.31354706_31354708del	GRCh37
NC_000014.7:g.30424457_30424459del	NCBI36
NG_008211.2:g.15966_15968del

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.1035_1037del	ENSP00000216361.5:p.Asp346del
ENST00000396618.9:c.840_842del MANE Select	ENSP00000379862.3:p.Asp281del
ENST00000555117.2:c.897_899del	ENSP00000493569.1:p.Asp300del
ENST00000643575.1:c.840_842del	ENSP00000494838.1:p.Asp281del
ENST00000643697.1:n.1142_1144del
ENST00000644874.2:c.840_842del	ENSP00000496360.1:p.Asp281del
ENST00000216361.8:c.840_842del	ENSP00000216361.4:p.Asp281del
ENST00000396618.7:c.840_842del	ENSP00000379862.3:p.Asp281del
ENST00000460581.6:c.504_506del	ENSP00000451713.1:p.Asp169del
ENST00000468826.2:c.491_493del
ENST00000475087.5:c.840_842del	ENSP00000451528.1:p.Asp281del
ENST00000555881.5:c.486_488del	ENSP00000452569.1:p.Asp163del
ENST00000557065.1:c.622_624del	ENSP00000451629.1:n.622_624del
NM_001135058.1:c.840_842del	NP_001128530.1:p.Asp281del
NM_004086.2:c.840_842del	NP_004077.1:p.Asp281del
NR_038356.1:n.1366_1368del
XM_011536539.1:c.840_842del	XP_011534841.1:p.Asp281del
NM_001347720.1:c.1035_1037del	NP_001334649.1:p.Asp346del
XM_017021071.1:c.1035_1037del	XP_016876560.1:p.Asp346del
XM_024449506.1:c.897_899del	XP_024305274.1:p.Asp300del
NM_004086.3:c.840_842del MANE Select	NP_004077.1:p.Asp281del
NM_001135058.2:c.840_842del	NP_001128530.1:p.Asp281del
NM_001347720.2:c.1035_1037del	NP_001334649.1:p.Asp346del