Canonical Allele Identifier: CA725499237

Gene: CA5A

Linked Data

• dbSNP Id: rs1282432059
• gnomAD v3: 16-87902476-CT-C
• gnomAD v4: 16-87902476-CT-C
• MyVariant Identifiers: chr16:g.87936083del (hg19) ; chr16:g.87902477del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87902478del , CM000678.2:g.87902478del	GRCh38
NC_000016.9:g.87936084del , CM000678.1:g.87936084del	GRCh37
NC_000016.8:g.86493585del	NCBI36
NG_033227.1:g.39030del
NG_033227.2:g.39053del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648022.1:c.503del	ENSP00000497934.1:p.Lys168ArgfsTer12
ENST00000648177.1:c.384del	ENSP00000497626.1:p.Gly129GlufsTer?
ENST00000649158.1:c.503del	ENSP00000496993.1:p.Lys168ArgfsTer12
ENST00000649794.3:c.503del MANE Select	ENSP00000498065.2:p.Lys168ArgfsTer12
ENST00000309893.3:c.503del	ENSP00000309649.2:p.Lys168ArgfsTer12
NM_001739.1:c.503del	NP_001730.1:p.Lys168ArgfsTer12
XM_011523309.1:c.503del	XP_011521611.1:p.Lys168ArgfsTer12
XM_011523310.1:c.503del	XP_011521612.1:p.Lys168ArgfsTer12
XR_933417.1:n.622del
NM_001739.2:c.503del MANE Select	NP_001730.1:p.Lys168ArgfsTer12
XM_011523309.2:c.503del	XP_011521611.1:p.Lys168ArgfsTer12
XM_017023646.1:c.503del	XP_016879135.1:p.Lys168ArgfsTer12
XM_024450434.1:c.125del	XP_024306202.1:p.Lys42ArgfsTer12
XR_002957839.1:n.628del
NM_001367225.1:c.503del	NP_001354154.1:p.Lys168ArgfsTer12
NR_159798.1:n.582del
NR_159799.1:n.463del