Canonical Allele Identifier: CA2240759136
Gene: CA5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.87902388_87902391delinsCTTT , CM000678.2:g.87902388_87902391delinsCTTT GRCh38
NC_000016.9:g.87935994_87935997delinsCTTT , CM000678.1:g.87935994_87935997delinsCTTT GRCh37
NC_000016.8:g.86493495_86493498delinsCTTT NCBI36
NG_033227.1:g.39116_39119delinsAAAG
NG_033227.2:g.39139_39142delinsAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000648022.1:c.555+34_555+37delinsAAAG ENSP00000497934.1:n.555+34_555+37delinsAAAG
ENST00000648177.1:c.436+34_436+37delinsAAAG ENSP00000497626.1:n.436+34_436+37delinsAAAG
ENST00000649158.1:c.555+34_555+37delinsAAAG ENSP00000496993.1:n.555+34_555+37delinsAAAG
ENST00000649794.3:c.555+34_555+37delinsAAAG MANE Select ENSP00000498065.2:n.555+34_555+37delinsAAAG
ENST00000309893.3:c.555+34_555+37delinsAAAG ENSP00000309649.2:n.555+34_555+37delinsAAAG
NM_001739.1:c.555+34_555+37delinsAAAG NP_001730.1:n.555+34_555+37delinsAAAG
XM_011523309.1:c.555+34_555+37delinsAAAG XP_011521611.1:n.555+34_555+37delinsAAAG
XM_011523310.1:c.555+34_555+37delinsAAAG XP_011521612.1:n.555+34_555+37delinsAAAG
XR_933417.1:n.674+34_674+37delinsAAAG
NM_001739.2:c.555+34_555+37delinsAAAG MANE Select NP_001730.1:n.555+34_555+37delinsAAAG
XM_011523309.2:c.555+34_555+37delinsAAAG XP_011521611.1:n.555+34_555+37delinsAAAG
XM_017023646.1:c.555+34_555+37delinsAAAG XP_016879135.1:n.555+34_555+37delinsAAAG
XM_024450434.1:c.177+34_177+37delinsAAAG XP_024306202.1:n.177+34_177+37delinsAAAG
XR_002957839.1:n.680+34_680+37delinsAAAG
NM_001367225.1:c.555+34_555+37delinsAAAG NP_001354154.1:n.555+34_555+37delinsAAAG
NR_159798.1:n.634+34_634+37delinsAAAG
NR_159799.1:n.515+34_515+37delinsAAAG