Canonical Allele Identifier: CA725499196

Gene: CA5A

Linked Data

• dbSNP Id: rs1273256990
• gnomAD v3: 16-87902461-TC-T
• gnomAD v4: 16-87902461-TC-T
• MyVariant Identifiers: chr16:g.87936068del (hg19) ; chr16:g.87902462del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87902464del , CM000678.2:g.87902464del	GRCh38
NC_000016.9:g.87936070del , CM000678.1:g.87936070del	GRCh37
NC_000016.8:g.86493571del	NCBI36
NG_033227.1:g.39045del
NG_033227.2:g.39068del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648022.1:c.518del	ENSP00000497934.1:p.Gly173GlufsTer7
ENST00000648177.1:c.399del	ENSP00000497626.1:p.Arg134GlufsTer?
ENST00000649158.1:c.518del	ENSP00000496993.1:p.Gly173GlufsTer7
ENST00000649794.3:c.518del MANE Select	ENSP00000498065.2:p.Gly173GlufsTer7
ENST00000309893.3:c.518del	ENSP00000309649.2:p.Gly173GlufsTer7
NM_001739.1:c.518del	NP_001730.1:p.Gly173GlufsTer7
XM_011523309.1:c.518del	XP_011521611.1:p.Gly173GlufsTer7
XM_011523310.1:c.518del	XP_011521612.1:p.Gly173GlufsTer7
XR_933417.1:n.637del
NM_001739.2:c.518del MANE Select	NP_001730.1:p.Gly173GlufsTer7
XM_011523309.2:c.518del	XP_011521611.1:p.Gly173GlufsTer7
XM_017023646.1:c.518del	XP_016879135.1:p.Gly173GlufsTer7
XM_024450434.1:c.140del	XP_024306202.1:p.Gly47GlufsTer7
XR_002957839.1:n.643del
NM_001367225.1:c.518del	NP_001354154.1:p.Gly173GlufsTer7
NR_159798.1:n.597del
NR_159799.1:n.478del