Canonical Allele Identifier: CA2580071739

Gene: AGA

Linked Data

• ClinVar Variation Id: 1979348
• ClinVar RCV Id: RCV002779993

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440260_177440261delinsCT , CM000666.2:g.177440260_177440261delinsCT	GRCh38
NC_000004.11:g.178361414_178361415delinsCT , CM000666.1:g.178361414_178361415delinsCT	GRCh37
NC_000004.10:g.178598408_178598409delinsCT	NCBI36
NG_011845.2:g.7243_7244delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.281+12_281+13delinsAG MANE Select	ENSP00000264595.2:n.281+12_281+13delinsAG...
ENST00000264595.6:c.281+12_281+13delinsAG	ENSP00000264595.2:n.281+12_281+13delinsAG...
ENST00000506853.5:n.315+12_315+13delinsAG
ENST00000510955.5:n.315+12_315+13delinsAG
ENST00000511231.1:n.327_328delinsAG
NM_000027.3:c.281+12_281+13delinsAG	NP_000018.2:n.281+12_281+13delinsAG
NM_001171988.1:c.281+12_281+13delinsAG	NP_001165459.1:n.281+12_281+13delinsAG
NR_033655.1:n.409+12_409+13delinsAG
XM_006714123.2:c.281+12_281+13delinsAG	XP_006714186.1:n.281+12_281+13delinsAG
XR_001741155.2:n.375+12_375+13delinsAG
NM_000027.4:c.281+12_281+13delinsAG MANE Select	NP_000018.2:n.281+12_281+13delinsAG
NM_001171988.2:c.281+12_281+13delinsAG	NP_001165459.1:n.281+12_281+13delinsAG
NR_033655.2:n.343+12_343+13delinsAG