Canonical Allele Identifier: CA2240759117

Gene: CA5A

Linked Data

• dbSNP Id: rs2055890851
• gnomAD v4: 16-87902358-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87902358_87902359insT , CM000678.2:g.87902358_87902359insT	GRCh38
NC_000016.9:g.87935964_87935965insT , CM000678.1:g.87935964_87935965insT	GRCh37
NC_000016.8:g.86493465_86493466insT	NCBI36
NG_033227.1:g.39148_39149insA
NG_033227.2:g.39171_39172insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648022.1:c.555+66_555+67insA	ENSP00000497934.1:n.555+66_555+67insA
ENST00000648177.1:c.436+66_436+67insA	ENSP00000497626.1:n.436+66_436+67insA
ENST00000649158.1:c.555+66_555+67insA	ENSP00000496993.1:n.555+66_555+67insA
ENST00000649794.3:c.555+66_555+67insA MANE Select	ENSP00000498065.2:n.555+66_555+67insA
ENST00000309893.3:c.555+66_555+67insA	ENSP00000309649.2:n.555+66_555+67insA
NM_001739.1:c.555+66_555+67insA	NP_001730.1:n.555+66_555+67insA
XM_011523309.1:c.555+66_555+67insA	XP_011521611.1:n.555+66_555+67insA
XM_011523310.1:c.555+66_555+67insA	XP_011521612.1:n.555+66_555+67insA
XR_933417.1:n.674+66_674+67insA
NM_001739.2:c.555+66_555+67insA MANE Select	NP_001730.1:n.555+66_555+67insA
XM_011523309.2:c.555+66_555+67insA	XP_011521611.1:n.555+66_555+67insA
XM_017023646.1:c.555+66_555+67insA	XP_016879135.1:n.555+66_555+67insA
XM_024450434.1:c.177+66_177+67insA	XP_024306202.1:n.177+66_177+67insA
XR_002957839.1:n.680+66_680+67insA
NM_001367225.1:c.555+66_555+67insA	NP_001354154.1:n.555+66_555+67insA
NR_159798.1:n.634+66_634+67insA
NR_159799.1:n.515+66_515+67insA