Canonical Allele Identifier: CA2578238508

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438733del , CM000666.2:g.177438733del	GRCh38
NC_000004.11:g.178359887del , CM000666.1:g.178359887del	GRCh37
NC_000004.10:g.178596881del	NCBI36
NG_011845.2:g.8773del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.507+14del MANE Select	ENSP00000264595.2:n.507+14del
ENST00000264595.6:c.507+14del	ENSP00000264595.2:n.507+14del
ENST00000502310.5:c.162+14del	ENSP00000423798.1:n.162+14del
ENST00000506853.5:n.541+14del
ENST00000510635.1:c.203+14del
ENST00000510955.5:n.428+14del
NM_000027.3:c.507+14del	NP_000018.2:n.507+14del
NM_001171988.1:c.507+14del	NP_001165459.1:n.507+14del
NR_033655.1:n.635+14del
XM_006714123.2:c.507+14del	XP_006714186.1:n.507+14del
XR_001741155.2:n.601+14del
NM_000027.4:c.507+14del MANE Select	NP_000018.2:n.507+14del
NM_001171988.2:c.507+14del	NP_001165459.1:n.507+14del
NR_033655.2:n.569+14del