Canonical Allele Identifier: CA624155664

Gene: CA5A

Linked Data

• dbSNP Id: rs1316150145
• gnomAD v2: 16-87935989-C-CG
• gnomAD v3: 16-87902383-C-CG
• gnomAD v4: 16-87902383-C-CG
• MyVariant Identifiers: chr16:g.87935989_87935990insG (hg19) ; chr16:g.87902383_87902384insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87902383_87902384insG , CM000678.2:g.87902383_87902384insG	GRCh38
NC_000016.9:g.87935989_87935990insG , CM000678.1:g.87935989_87935990insG	GRCh37
NC_000016.8:g.86493490_86493491insG	NCBI36
NG_033227.1:g.39123_39124insC
NG_033227.2:g.39146_39147insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648022.1:c.555+41_555+42insC	ENSP00000497934.1:n.555+41_555+42insC
ENST00000648177.1:c.436+41_436+42insC	ENSP00000497626.1:n.436+41_436+42insC
ENST00000649158.1:c.555+41_555+42insC	ENSP00000496993.1:n.555+41_555+42insC
ENST00000649794.3:c.555+41_555+42insC MANE Select	ENSP00000498065.2:n.555+41_555+42insC
ENST00000309893.3:c.555+41_555+42insC	ENSP00000309649.2:n.555+41_555+42insC
NM_001739.1:c.555+41_555+42insC	NP_001730.1:n.555+41_555+42insC
XM_011523309.1:c.555+41_555+42insC	XP_011521611.1:n.555+41_555+42insC
XM_011523310.1:c.555+41_555+42insC	XP_011521612.1:n.555+41_555+42insC
XR_933417.1:n.674+41_674+42insC
NM_001739.2:c.555+41_555+42insC MANE Select	NP_001730.1:n.555+41_555+42insC
XM_011523309.2:c.555+41_555+42insC	XP_011521611.1:n.555+41_555+42insC
XM_017023646.1:c.555+41_555+42insC	XP_016879135.1:n.555+41_555+42insC
XM_024450434.1:c.177+41_177+42insC	XP_024306202.1:n.177+41_177+42insC
XR_002957839.1:n.680+41_680+42insC
NM_001367225.1:c.555+41_555+42insC	NP_001354154.1:n.555+41_555+42insC
NR_159798.1:n.634+41_634+42insC
NR_159799.1:n.515+41_515+42insC