Canonical Allele Identifier: CA980253675

Gene: CA5A

Linked Data

• gnomAD v3: 16-87902371-C-CTATTTAT
• gnomAD v4: 16-87902371-C-CTATTTAT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87902373_87902374insTTTATTA , CM000678.2:g.87902373_87902374insTTTATTA	GRCh38
NC_000016.9:g.87935979_87935980insTTTATTA , CM000678.1:g.87935979_87935980insTTTATTA	GRCh37
NC_000016.8:g.86493480_86493481insTTTATTA	NCBI36
NG_033227.1:g.39135_39136insATAAATA
NG_033227.2:g.39158_39159insATAAATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648022.1:c.555+53_555+54insATAAATA	ENSP00000497934.1:n.555+53_555+54insATAAATA
ENST00000648177.1:c.436+53_436+54insATAAATA	ENSP00000497626.1:n.436+53_436+54insATAAATA
ENST00000649158.1:c.555+53_555+54insATAAATA	ENSP00000496993.1:n.555+53_555+54insATAAATA
ENST00000649794.3:c.555+53_555+54insATAAATA MANE Select	ENSP00000498065.2:n.555+53_555+54insATAAATA
ENST00000309893.3:c.555+53_555+54insATAAATA	ENSP00000309649.2:n.555+53_555+54insATAAATA
NM_001739.1:c.555+53_555+54insATAAATA	NP_001730.1:n.555+53_555+54insATAAATA
XM_011523309.1:c.555+53_555+54insATAAATA	XP_011521611.1:n.555+53_555+54insATAAATA
XM_011523310.1:c.555+53_555+54insATAAATA	XP_011521612.1:n.555+53_555+54insATAAATA
XR_933417.1:n.674+53_674+54insATAAATA
NM_001739.2:c.555+53_555+54insATAAATA MANE Select	NP_001730.1:n.555+53_555+54insATAAATA
XM_011523309.2:c.555+53_555+54insATAAATA	XP_011521611.1:n.555+53_555+54insATAAATA
XM_017023646.1:c.555+53_555+54insATAAATA	XP_016879135.1:n.555+53_555+54insATAAATA
XM_024450434.1:c.177+53_177+54insATAAATA	XP_024306202.1:n.177+53_177+54insATAAATA
XR_002957839.1:n.680+53_680+54insATAAATA
NM_001367225.1:c.555+53_555+54insATAAATA	NP_001354154.1:n.555+53_555+54insATAAATA
NR_159798.1:n.634+53_634+54insATAAATA
NR_159799.1:n.515+53_515+54insATAAATA