Canonical Allele Identifier: CA980253652

Gene: CA5A

Linked Data

• gnomAD v3: 16-87902343-G-GACTCCA
• gnomAD v4: 16-87902343-G-GACTCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87902343_87902344insACTCCA , CM000678.2:g.87902343_87902344insACTCCA	GRCh38
NC_000016.9:g.87935949_87935950insACTCCA , CM000678.1:g.87935949_87935950insACTCCA	GRCh37
NC_000016.8:g.86493450_86493451insACTCCA	NCBI36
NG_033227.1:g.39163_39164insTGGAGT
NG_033227.2:g.39186_39187insTGGAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648022.1:c.555+81_555+82insTGGAGT	ENSP00000497934.1:n.555+81_555+82insTGGAGT
ENST00000648177.1:c.436+81_436+82insTGGAGT	ENSP00000497626.1:n.436+81_436+82insTGGAGT
ENST00000649158.1:c.555+81_555+82insTGGAGT	ENSP00000496993.1:n.555+81_555+82insTGGAGT
ENST00000649794.3:c.555+81_555+82insTGGAGT MANE Select	ENSP00000498065.2:n.555+81_555+82insTGGAGT
ENST00000309893.3:c.555+81_555+82insTGGAGT	ENSP00000309649.2:n.555+81_555+82insTGGAGT
NM_001739.1:c.555+81_555+82insTGGAGT	NP_001730.1:n.555+81_555+82insTGGAGT
XM_011523309.1:c.555+81_555+82insTGGAGT	XP_011521611.1:n.555+81_555+82insTGGAGT
XM_011523310.1:c.555+81_555+82insTGGAGT	XP_011521612.1:n.555+81_555+82insTGGAGT
XR_933417.1:n.674+81_674+82insTGGAGT
NM_001739.2:c.555+81_555+82insTGGAGT MANE Select	NP_001730.1:n.555+81_555+82insTGGAGT
XM_011523309.2:c.555+81_555+82insTGGAGT	XP_011521611.1:n.555+81_555+82insTGGAGT
XM_017023646.1:c.555+81_555+82insTGGAGT	XP_016879135.1:n.555+81_555+82insTGGAGT
XM_024450434.1:c.177+81_177+82insTGGAGT	XP_024306202.1:n.177+81_177+82insTGGAGT
XR_002957839.1:n.680+81_680+82insTGGAGT
NM_001367225.1:c.555+81_555+82insTGGAGT	NP_001354154.1:n.555+81_555+82insTGGAGT
NR_159798.1:n.634+81_634+82insTGGAGT
NR_159799.1:n.515+81_515+82insTGGAGT