Canonical Allele Identifier: CA2643090651

Gene: CA6

Linked Data

• gnomAD v4: 1-8957221-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957222del , CM000663.2:g.8957222del	GRCh38
NC_000001.10:g.9017281del , CM000663.1:g.9017281del	GRCh37
NC_000001.9:g.8939868del	NCBI36
NG_033975.1:g.16389del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.345del MANE Select	ENSP00000366662.2:p.Gly116ValfsTer19
ENST00000377436.6:c.345del	ENSP00000366654.3:p.Gly116ValfsTer19
ENST00000377442.3:c.165del	ENSP00000366661.2:p.Gly56ValfsTer19
ENST00000377443.6:c.345del	ENSP00000366662.2:p.Gly116ValfsTer19
ENST00000476083.1:n.99-1688del
ENST00000549778.5:c.249del	ENSP00000447108.1:p.Gly84ValfsTer19
NM_001215.3:c.345del	NP_001206.2:p.Gly116ValfsTer19
NM_001270500.1:c.345del	NP_001257429.1:p.Gly116ValfsTer19
NM_001270501.1:c.165del	NP_001257430.1:p.Gly56ValfsTer19
NM_001270502.1:c.25-1688del	NP_001257431.1:n.25-1688del
XM_011542083.1:c.357del	XP_011540385.1:p.Gly120ValfsTer19
XM_011542084.1:c.357del	XP_011540386.1:p.Gly120ValfsTer19
XM_011542083.3:c.357del	XP_011540385.1:p.Gly120ValfsTer19
XM_011542084.3:c.357del	XP_011540386.1:p.Gly120ValfsTer19
NM_001215.4:c.345del MANE Select	NP_001206.2:p.Gly116ValfsTer19
NM_001270500.2:c.345del	NP_001257429.1:p.Gly116ValfsTer19
NM_001270501.2:c.165del	NP_001257430.1:p.Gly56ValfsTer19
NM_001270502.2:c.25-1688del	NP_001257431.1:n.25-1688del