Canonical Allele Identifier: CA2240759179
Gene: CA5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.87902461_87902462delinsTC , CM000678.2:g.87902461_87902462delinsTC GRCh38
NC_000016.9:g.87936067_87936068delinsTC , CM000678.1:g.87936067_87936068delinsTC GRCh37
NC_000016.8:g.86493568_86493569delinsTC NCBI36
NG_033227.1:g.39045_39046delinsGA
NG_033227.2:g.39068_39069delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000648022.1:c.518_519delinsGA ENSP00000497934.1:p.Gly173=
ENST00000648177.1:c.399_400delinsGA ENSP00000497626.1:p.Gly133=
ENST00000649158.1:c.518_519delinsGA ENSP00000496993.1:p.Gly173=
ENST00000649794.3:c.518_519delinsGA MANE Select ENSP00000498065.2:p.Gly173=
ENST00000309893.3:c.518_519delinsGA ENSP00000309649.2:p.Gly173=
NM_001739.1:c.518_519delinsGA NP_001730.1:p.Gly173=
XM_011523309.1:c.518_519delinsGA XP_011521611.1:p.Gly173=
XM_011523310.1:c.518_519delinsGA XP_011521612.1:p.Gly173=
XR_933417.1:n.637_638delinsGA
NM_001739.2:c.518_519delinsGA MANE Select NP_001730.1:p.Gly173=
XM_011523309.2:c.518_519delinsGA XP_011521611.1:p.Gly173=
XM_017023646.1:c.518_519delinsGA XP_016879135.1:p.Gly173=
XM_024450434.1:c.140_141delinsGA XP_024306202.1:p.Gly47=
XR_002957839.1:n.643_644delinsGA
NM_001367225.1:c.518_519delinsGA NP_001354154.1:p.Gly173=
NR_159798.1:n.597_598delinsGA
NR_159799.1:n.478_479delinsGA