Canonical Allele Identifier: CA2578238468

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437384del , CM000666.2:g.177437384del	GRCh38
NC_000004.11:g.178358538del , CM000666.1:g.178358538del	GRCh37
NC_000004.10:g.178595532del	NCBI36
NG_011845.2:g.10124del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.622+25del MANE Select	ENSP00000264595.2:n.622+25del
ENST00000264595.6:c.622+25del	ENSP00000264595.2:n.622+25del
ENST00000502310.5:c.277+25del	ENSP00000423798.1:n.277+25del
ENST00000506853.5:n.656+25del
ENST00000510635.1:c.318+25del
ENST00000510955.5:n.568del
NM_000027.3:c.622+25del	NP_000018.2:n.622+25del
NM_001171988.1:c.622+25del	NP_001165459.1:n.622+25del
NR_033655.1:n.750+25del
XM_006714123.2:c.622+25del	XP_006714186.1:n.622+25del
XR_001741155.2:n.716+25del
NM_000027.4:c.622+25del MANE Select	NP_000018.2:n.622+25del
NM_001171988.2:c.622+25del	NP_001165459.1:n.622+25del
NR_033655.2:n.684+25del