Canonical Allele Identifier: CA7143384

Gene: COCH

Linked Data

• dbSNP Id: rs773680146
• ExAC: 14:31359039 CCA / C
• gnomAD v2: 14-31359039-CCA-C
• gnomAD v3: 14-30889833-CCA-C
• gnomAD v4: 14-30889833-CCA-C
• MyVariant Identifiers: chr14:g.31359040_31359041del (hg19) ; chr14:g.30889834_30889835del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30889834_30889835del , CM000676.2:g.30889834_30889835del	GRCh38
NC_000014.8:g.31359040_31359041del , CM000676.1:g.31359040_31359041del	GRCh37
NC_000014.7:g.30428791_30428792del	NCBI36
NG_008211.2:g.20300_20301del

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.*43_*44del	ENSP00000216361.5:n.*43_*44del
ENST00000396618.9:c.*43_*44del MANE Select	ENSP00000379862.3:n.*43_*44del
ENST00000555117.2:c.1534+3522_1534+3523del	ENSP00000493569.1:n.1534+3522_1534+3523del
ENST00000643575.1:c.*2+41_*2+42del	ENSP00000494838.1:n.*2+41_*2+42del
ENST00000643697.1:n.1998_1999del
ENST00000644874.2:c.*43_*44del	ENSP00000496360.1:n.*43_*44del
ENST00000216361.8:c.*43_*44del	ENSP00000216361.4:n.*43_*44del
ENST00000396618.7:c.*43_*44del	ENSP00000379862.3:n.*43_*44del
ENST00000460581.6:c.*43_*44del	ENSP00000451713.1:n.*43_*44del
ENST00000468826.2:c.1347_1348del
ENST00000475087.5:c.1477+3522_1477+3523del	ENSP00000451528.1:n.1477+3522_1477+3523del
NM_001135058.1:c.*43_*44del	NP_001128530.1:n.*43_*44del
NM_004086.2:c.*43_*44del	NP_004077.1:n.*43_*44del
XM_011536539.1:c.*2+41_*2+42del	XP_011534841.1:n.*2+41_*2+42del
NM_001347720.1:c.*43_*44del	NP_001334649.1:n.*43_*44del
XM_017021071.1:c.*43_*44del	XP_016876560.1:n.*43_*44del
XM_024449506.1:c.*43_*44del	XP_024305274.1:n.*43_*44del
NM_004086.3:c.*43_*44del MANE Select	NP_004077.1:n.*43_*44del
NM_001135058.2:c.*43_*44del	NP_001128530.1:n.*43_*44del
NM_001347720.2:c.*43_*44del	NP_001334649.1:n.*43_*44del