Canonical Allele Identifier: CA2831038893

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438781del , CM000666.2:g.177438781del	GRCh38
NC_000004.11:g.178359935del , CM000666.1:g.178359935del	GRCh37
NC_000004.10:g.178596929del	NCBI36
NG_011845.2:g.8724del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.472del MANE Select	ENSP00000264595.2:p.Trp158GlyfsTer?
ENST00000264595.6:c.472del	ENSP00000264595.2:p.Trp158GlyfsTer?
ENST00000502310.5:c.127del	ENSP00000423798.1:p.Trp43GlyfsTer?
ENST00000506853.5:n.506del
ENST00000510635.1:c.168del
ENST00000510955.5:n.393del
NM_000027.3:c.472del	NP_000018.2:p.Trp158GlyfsTer?
NM_001171988.1:c.472del	NP_001165459.1:p.Trp158GlyfsTer?
NR_033655.1:n.600del
XM_006714123.2:c.472del	XP_006714186.1:p.Trp158GlyfsTer?
XR_001741155.2:n.566del
NM_000027.4:c.472del MANE Select	NP_000018.2:p.Trp158GlyfsTer?
NM_001171988.2:c.472del	NP_001165459.1:p.Trp158GlyfsTer?
NR_033655.2:n.534del