Canonical Allele Identifier: CA2582341663

Gene: COCH

Linked Data

• ClinVar Variation Id: 2581793
• ClinVar RCV Id: RCV003332499

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30886031_30886048del , CM000676.2:g.30886031_30886048del	GRCh38
NC_000014.8:g.31355237_31355254del , CM000676.1:g.31355237_31355254del	GRCh37
NC_000014.7:g.30424988_30425005del	NCBI36
NG_008211.2:g.16497_16514del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1391_1408del	ENSP00000216361.5:p.Ile464_Ala469del
ENST00000396618.9:c.1196_1213del MANE Select	ENSP00000379862.3:p.Ile399_Ala404del
ENST00000555117.2:c.1253_1270del	ENSP00000493569.1:p.Ile418_Ala423del
ENST00000643575.1:c.1196_1213del	ENSP00000494838.1:p.Ile399_Ala404del
ENST00000643697.1:n.1498_1515del
ENST00000644874.2:c.1196_1213del	ENSP00000496360.1:p.Ile399_Ala404del
ENST00000216361.8:c.1196_1213del	ENSP00000216361.4:p.Ile399_Ala404del
ENST00000396618.7:c.1196_1213del	ENSP00000379862.3:p.Ile399_Ala404del
ENST00000460581.6:c.860_877del	ENSP00000451713.1:p.Ile287_Ala292del
ENST00000468826.2:c.847_864del
ENST00000475087.5:c.1196_1213del	ENSP00000451528.1:p.Ile399_Ala404del
NM_001135058.1:c.1196_1213del	NP_001128530.1:p.Ile399_Ala404del
NM_004086.2:c.1196_1213del	NP_004077.1:p.Ile399_Ala404del
NR_038356.1:n.818_835del
XM_011536539.1:c.1196_1213del	XP_011534841.1:p.Ile399_Ala404del
NM_001347720.1:c.1391_1408del	NP_001334649.1:p.Ile464_Ala469del
XM_017021071.1:c.1391_1408del	XP_016876560.1:p.Ile464_Ala469del
XM_024449506.1:c.1253_1270del	XP_024305274.1:p.Ile418_Ala423del
NM_004086.3:c.1196_1213del MANE Select	NP_004077.1:p.Ile399_Ala404del
NM_001135058.2:c.1196_1213del	NP_001128530.1:p.Ile399_Ala404del
NM_001347720.2:c.1391_1408del	NP_001334649.1:p.Ile464_Ala469del