Canonical Allele Identifier: CA2672747332

Gene: AGA

Linked Data

• gnomAD v4: 4-177438612-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438616del , CM000666.2:g.177438616del	GRCh38
NC_000004.11:g.178359770del , CM000666.1:g.178359770del	GRCh37
NC_000004.10:g.178596764del	NCBI36
NG_011845.2:g.8891del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.507+132del MANE Select	ENSP00000264595.2:n.507+132del
ENST00000264595.6:c.507+132del	ENSP00000264595.2:n.507+132del
ENST00000502310.5:c.162+132del	ENSP00000423798.1:n.162+132del
ENST00000506853.5:n.541+132del
ENST00000510635.1:c.203+132del
ENST00000510955.5:n.428+132del
NM_000027.3:c.507+132del	NP_000018.2:n.507+132del
NM_001171988.1:c.507+132del	NP_001165459.1:n.507+132del
NR_033655.1:n.635+132del
XM_006714123.2:c.507+132del	XP_006714186.1:n.507+132del
XR_001741155.2:n.601+132del
NM_000027.4:c.507+132del MANE Select	NP_000018.2:n.507+132del
NM_001171988.2:c.507+132del	NP_001165459.1:n.507+132del
NR_033655.2:n.569+132del