Canonical Allele Identifier: CA612992950

Gene: COCH

Linked Data

• dbSNP Id: rs1286541093
• gnomAD v2: 14-31354598-AGGAAAAGCCTT-A
• gnomAD v4: 14-30885392-AGGAAAAGCCTT-A
• MyVariant Identifiers: chr14:g.31354599_31354609del (hg19) ; chr14:g.30885393_30885403del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885394_30885404del , CM000676.2:g.30885394_30885404del	GRCh38
NC_000014.8:g.31354600_31354610del , CM000676.1:g.31354600_31354610del	GRCh37
NC_000014.7:g.30424351_30424361del	NCBI36
NG_008211.2:g.15860_15870del

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.929_939del
ENST00000396618.9:c.734_744del
ENST00000555117.2:c.791_801del
ENST00000643575.1:c.734_744del
ENST00000643697.1:n.1036_1046del
ENST00000644874.2:c.734_744del
ENST00000216361.8:c.734_744del
ENST00000396618.7:c.734_744del
ENST00000460581.6:c.398_408del
ENST00000468826.2:c.385_395del
ENST00000475087.5:c.734_744del
ENST00000555881.5:c.380_390del
ENST00000557065.1:c.516_526del
NM_001135058.1:c.734_744del
NM_004086.2:c.734_744del
NR_038356.1:n.1452+10_1452+20del
XM_011536539.1:c.734_744del
NM_001347720.1:c.929_939del
XM_017021071.1:c.929_939del
XM_024449506.1:c.791_801del
NM_004086.3:c.734_744del
NM_001135058.2:c.734_744del
NM_001347720.2:c.929_939del