Canonical Allele Identifier: CA2580613488

Gene: AGA

Linked Data

• ClinVar Variation Id: 2503825
• ClinVar RCV Id: RCV003230816

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442337del , CM000666.2:g.177442337del	GRCh38
NC_000004.11:g.178363491del , CM000666.1:g.178363491del	GRCh37
NC_000004.10:g.178600485del	NCBI36
NG_011845.2:g.5167del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.39del MANE Select	ENSP00000264595.2:p.Leu15CysfsTer6
ENST00000264595.6:c.39del	ENSP00000264595.2:p.Leu15CysfsTer6
ENST00000506853.5:n.73del
ENST00000510955.5:n.73del
ENST00000511231.1:n.73del
NM_000027.3:c.39del	NP_000018.2:p.Leu15CysfsTer6
NM_001171988.1:c.39del	NP_001165459.1:p.Leu15CysfsTer6
NR_033655.1:n.167del
XM_006714123.2:c.39del	XP_006714186.1:p.Leu15CysfsTer6
XR_001741155.2:n.133del
NM_000027.4:c.39del MANE Select	NP_000018.2:p.Leu15CysfsTer6
NM_001171988.2:c.39del	NP_001165459.1:p.Leu15CysfsTer6
NR_033655.2:n.101del