Canonical Allele Identifier: CA980253677

Gene: CA5A

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87902372_87902373insTTTTTTT , CM000678.2:g.87902372_87902373insTTTTTTT	GRCh38
NC_000016.9:g.87935978_87935979insTTTTTTT , CM000678.1:g.87935978_87935979insTTTTTTT	GRCh37
NC_000016.8:g.86493479_86493480insTTTTTTT	NCBI36
NG_033227.1:g.39135_39136insAAAAAAA
NG_033227.2:g.39158_39159insAAAAAAA

Transcript Alleles

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