Canonical Allele Identifier: CA704924320

Gene: COCH

Linked Data

• dbSNP Id: rs1487853812
• gnomAD v4: 14-30879053-ACTAAAG-A
• MyVariant Identifiers: chr14:g.31348260_31348265del (hg19) ; chr14:g.30879054_30879059del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30879056_30879061del , CM000676.2:g.30879056_30879061del	GRCh38
NC_000014.8:g.31348262_31348267del , CM000676.1:g.31348262_31348267del	GRCh37
NC_000014.7:g.30418013_30418018del	NCBI36
NG_008211.2:g.9522_9527del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.568+112_568+117del	ENSP00000216361.5:n.568+112_568+117del
ENST00000396618.9:c.373+112_373+117del MANE Select	ENSP00000379862.3:n.373+112_373+117del
ENST00000555117.2:c.373+112_373+117del	ENSP00000493569.1:n.373+112_373+117del
ENST00000643575.1:c.373+112_373+117del	ENSP00000494838.1:n.373+112_373+117del
ENST00000643697.1:n.618+112_618+117del
ENST00000644874.2:c.373+112_373+117del	ENSP00000496360.1:n.373+112_373+117del
ENST00000216361.8:c.373+112_373+117del	ENSP00000216361.4:n.373+112_373+117del
ENST00000396618.7:c.373+112_373+117del	ENSP00000379862.3:n.373+112_373+117del
ENST00000460581.6:c.37+112_37+117del	ENSP00000451713.1:n.37+112_37+117del
ENST00000475087.5:c.373+112_373+117del	ENSP00000451528.1:n.373+112_373+117del
ENST00000553772.5:c.239+1328_239+1333del	ENSP00000452343.1:n.239+1328_239+1333del
ENST00000553833.5:n.527+112_527+117del
ENST00000555881.5:c.83-1396_83-1391del	ENSP00000452569.1:n.83-1396_83-1391del
ENST00000556908.5:c.325+112_325+117del	ENSP00000452541.1:n.325+112_325+117del
ENST00000557065.1:c.156-367_156-362del	ENSP00000451629.1:n.156-367_156-362del
NM_001135058.1:c.373+112_373+117del	NP_001128530.1:n.373+112_373+117del
NM_004086.2:c.373+112_373+117del	NP_004077.1:n.373+112_373+117del
NR_038356.1:n.1618-2507_1618-2502del
XM_011536539.1:c.373+112_373+117del	XP_011534841.1:n.373+112_373+117del
NM_001347720.1:c.568+112_568+117del	NP_001334649.1:n.568+112_568+117del
XM_017021071.1:c.568+112_568+117del	XP_016876560.1:n.568+112_568+117del
XM_024449506.1:c.373+112_373+117del	XP_024305274.1:n.373+112_373+117del
NM_004086.3:c.373+112_373+117del MANE Select	NP_004077.1:n.373+112_373+117del
NM_001135058.2:c.373+112_373+117del	NP_001128530.1:n.373+112_373+117del
NM_001347720.2:c.568+112_568+117del	NP_001334649.1:n.568+112_568+117del