Canonical Allele Identifier: CA2634808136

Gene: CA5A

Linked Data

• gnomAD v4: 16-87902649-G-GGAAAATTATTTAACCT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87902649_87902650insGAAAATTATTTAACCT , CM000678.2:g.87902649_87902650insGAAAATTATTTAACCT	GRCh38
NC_000016.9:g.87936255_87936256insGAAAATTATTTAACCT , CM000678.1:g.87936255_87936256insGAAAATTATTTAACCT	GRCh37
NC_000016.8:g.86493756_86493757insGAAAATTATTTAACCT	NCBI36
NG_033227.1:g.38857_38858insAGGTTAAATAATTTTC
NG_033227.2:g.38880_38881insAGGTTAAATAATTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648022.1:c.460-130_460-129insAGGTTAAATAATTTTC	ENSP00000497934.1:n.460-130_460-129insAGGTTAAATAATTTTC
ENST00000648177.1:c.341-130_341-129insAGGTTAAATAATTTTC	ENSP00000497626.1:n.341-130_341-129insAGGTTAAATAATTTTC
ENST00000649158.1:c.460-130_460-129insAGGTTAAATAATTTTC	ENSP00000496993.1:n.460-130_460-129insAGGTTAAATAATTTTC
ENST00000649794.3:c.460-130_460-129insAGGTTAAATAATTTTC MANE Select	ENSP00000498065.2:n.460-130_460-129insAGGTTAAATAATTTTC
ENST00000309893.3:c.460-130_460-129insAGGTTAAATAATTTTC	ENSP00000309649.2:n.460-130_460-129insAGGTTAAATAATTTTC
NM_001739.1:c.460-130_460-129insAGGTTAAATAATTTTC	NP_001730.1:n.460-130_460-129insAGGTTAAATAATTTTC
XM_011523309.1:c.460-130_460-129insAGGTTAAATAATTTTC	XP_011521611.1:n.460-130_460-129insAGGTTAAATAATTTTC
XM_011523310.1:c.460-130_460-129insAGGTTAAATAATTTTC	XP_011521612.1:n.460-130_460-129insAGGTTAAATAATTTTC
XR_933417.1:n.579-130_579-129insAGGTTAAATAATTTTC
NM_001739.2:c.460-130_460-129insAGGTTAAATAATTTTC MANE Select	NP_001730.1:n.460-130_460-129insAGGTTAAATAATTTTC
XM_011523309.2:c.460-130_460-129insAGGTTAAATAATTTTC	XP_011521611.1:n.460-130_460-129insAGGTTAAATAATTTTC
XM_017023646.1:c.460-130_460-129insAGGTTAAATAATTTTC	XP_016879135.1:n.460-130_460-129insAGGTTAAATAATTTTC
XM_024450434.1:c.82-130_82-129insAGGTTAAATAATTTTC	XP_024306202.1:n.82-130_82-129insAGGTTAAATAATTTTC
XR_002957839.1:n.585-130_585-129insAGGTTAAATAATTTTC
NM_001367225.1:c.460-130_460-129insAGGTTAAATAATTTTC	NP_001354154.1:n.460-130_460-129insAGGTTAAATAATTTTC
NR_159798.1:n.539-130_539-129insAGGTTAAATAATTTTC
NR_159799.1:n.420-130_420-129insAGGTTAAATAATTTTC