Canonical Allele Identifier: CA2643090650

Gene: CA6

Linked Data

• gnomAD v4: 1-8957169-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957170del , CM000663.2:g.8957170del	GRCh38
NC_000001.10:g.9017229del , CM000663.1:g.9017229del	GRCh37
NC_000001.9:g.8939816del	NCBI36
NG_033975.1:g.16337del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.293del MANE Select	ENSP00000366662.2:p.Thr98LysfsTer9
ENST00000377436.6:c.293del	ENSP00000366654.3:p.Thr98LysfsTer9
ENST00000377442.3:c.113del	ENSP00000366661.2:p.Thr38LysfsTer9
ENST00000377443.6:c.293del	ENSP00000366662.2:p.Thr98LysfsTer9
ENST00000476083.1:n.99-1740del
ENST00000549778.5:c.197del	ENSP00000447108.1:p.Thr66LysfsTer9
NM_001215.3:c.293del	NP_001206.2:p.Thr98LysfsTer9
NM_001270500.1:c.293del	NP_001257429.1:p.Thr98LysfsTer9
NM_001270501.1:c.113del	NP_001257430.1:p.Thr38LysfsTer9
NM_001270502.1:c.25-1740del	NP_001257431.1:n.25-1740del
XM_011542083.1:c.305del	XP_011540385.1:p.Thr102LysfsTer9
XM_011542084.1:c.305del	XP_011540386.1:p.Thr102LysfsTer9
XM_011542083.3:c.305del	XP_011540385.1:p.Thr102LysfsTer9
XM_011542084.3:c.305del	XP_011540386.1:p.Thr102LysfsTer9
NM_001215.4:c.293del MANE Select	NP_001206.2:p.Thr98LysfsTer9
NM_001270500.2:c.293del	NP_001257429.1:p.Thr98LysfsTer9
NM_001270501.2:c.113del	NP_001257430.1:p.Thr38LysfsTer9
NM_001270502.2:c.25-1740del	NP_001257431.1:n.25-1740del