Canonical Allele Identifier: CA1139658706

Gene: AGA

Linked Data

• ClinVar Variation Id: 956675
• ClinVar RCV Id: RCV001229528
• dbSNP Id: rs1736955435

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440344del , CM000666.2:g.177440344del	GRCh38
NC_000004.11:g.178361498del , CM000666.1:g.178361498del	GRCh37
NC_000004.10:g.178598492del	NCBI36
NG_011845.2:g.7160del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.210del MANE Select	ENSP00000264595.2:p.Asp70GlufsTer4
ENST00000264595.6:c.210del	ENSP00000264595.2:p.Asp70GlufsTer4
ENST00000506853.5:n.244del
ENST00000510955.5:n.244del
ENST00000511231.1:n.244del
NM_000027.3:c.210del	NP_000018.2:p.Asp70GlufsTer4
NM_001171988.1:c.210del	NP_001165459.1:p.Asp70GlufsTer4
NR_033655.1:n.338del
XM_006714123.2:c.210del	XP_006714186.1:p.Asp70GlufsTer4
XR_001741155.2:n.304del
NM_000027.4:c.210del MANE Select	NP_000018.2:p.Asp70GlufsTer4
NM_001171988.2:c.210del	NP_001165459.1:p.Asp70GlufsTer4
NR_033655.2:n.272del