Canonical Allele Identifier: CA572965

Gene: CA6

Linked Data

• dbSNP Id: rs757706617
• ExAC: 1:9017281 AG / A
• gnomAD v2: 1-9017281-AG-A
• gnomAD v3: 1-8957222-AG-A
• gnomAD v4: 1-8957222-AG-A
• MyVariant Identifiers: chr1:g.9017282del (hg19) ; chr1:g.8957223del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957224del , CM000663.2:g.8957224del	GRCh38
NC_000001.10:g.9017283del , CM000663.1:g.9017283del	GRCh37
NC_000001.9:g.8939870del	NCBI36
NG_033975.1:g.16391del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.347del MANE Select	ENSP00000366662.2:p.Gly116ValfsTer19
ENST00000377436.6:c.347del	ENSP00000366654.3:p.Gly116ValfsTer19
ENST00000377442.3:c.167del	ENSP00000366661.2:p.Gly56ValfsTer19
ENST00000377443.6:c.347del	ENSP00000366662.2:p.Gly116ValfsTer19
ENST00000476083.1:n.99-1686del
ENST00000549778.5:c.251del	ENSP00000447108.1:p.Gly84ValfsTer19
NM_001215.3:c.347del	NP_001206.2:p.Gly116ValfsTer19
NM_001270500.1:c.347del	NP_001257429.1:p.Gly116ValfsTer19
NM_001270501.1:c.167del	NP_001257430.1:p.Gly56ValfsTer19
NM_001270502.1:c.25-1686del	NP_001257431.1:n.25-1686del
XM_011542083.1:c.359del	XP_011540385.1:p.Gly120ValfsTer19
XM_011542084.1:c.359del	XP_011540386.1:p.Gly120ValfsTer19
XM_011542083.3:c.359del	XP_011540385.1:p.Gly120ValfsTer19
XM_011542084.3:c.359del	XP_011540386.1:p.Gly120ValfsTer19
NM_001215.4:c.347del MANE Select	NP_001206.2:p.Gly116ValfsTer19
NM_001270500.2:c.347del	NP_001257429.1:p.Gly116ValfsTer19
NM_001270501.2:c.167del	NP_001257430.1:p.Gly56ValfsTer19
NM_001270502.2:c.25-1686del	NP_001257431.1:n.25-1686del