Canonical Allele Identifier: CA980253686

Gene: CA5A

Linked Data

• gnomAD v3: 16-87902378-T-TCC
• gnomAD v4: 16-87902378-T-TCC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87902378_87902379insCC , CM000678.2:g.87902378_87902379insCC	GRCh38
NC_000016.9:g.87935984_87935985insCC , CM000678.1:g.87935984_87935985insCC	GRCh37
NC_000016.8:g.86493485_86493486insCC	NCBI36
NG_033227.1:g.39128_39129insGG
NG_033227.2:g.39151_39152insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648022.1:c.555+46_555+47insGG	ENSP00000497934.1:n.555+46_555+47insGG
ENST00000648177.1:c.436+46_436+47insGG	ENSP00000497626.1:n.436+46_436+47insGG
ENST00000649158.1:c.555+46_555+47insGG	ENSP00000496993.1:n.555+46_555+47insGG
ENST00000649794.3:c.555+46_555+47insGG MANE Select	ENSP00000498065.2:n.555+46_555+47insGG
ENST00000309893.3:c.555+46_555+47insGG	ENSP00000309649.2:n.555+46_555+47insGG
NM_001739.1:c.555+46_555+47insGG	NP_001730.1:n.555+46_555+47insGG
XM_011523309.1:c.555+46_555+47insGG	XP_011521611.1:n.555+46_555+47insGG
XM_011523310.1:c.555+46_555+47insGG	XP_011521612.1:n.555+46_555+47insGG
XR_933417.1:n.674+46_674+47insGG
NM_001739.2:c.555+46_555+47insGG MANE Select	NP_001730.1:n.555+46_555+47insGG
XM_011523309.2:c.555+46_555+47insGG	XP_011521611.1:n.555+46_555+47insGG
XM_017023646.1:c.555+46_555+47insGG	XP_016879135.1:n.555+46_555+47insGG
XM_024450434.1:c.177+46_177+47insGG	XP_024306202.1:n.177+46_177+47insGG
XR_002957839.1:n.680+46_680+47insGG
NM_001367225.1:c.555+46_555+47insGG	NP_001354154.1:n.555+46_555+47insGG
NR_159798.1:n.634+46_634+47insGG
NR_159799.1:n.515+46_515+47insGG