Canonical Allele Identifier: CA2578238474

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437504del , CM000666.2:g.177437504del	GRCh38
NC_000004.11:g.178358658del , CM000666.1:g.178358658del	GRCh37
NC_000004.10:g.178595652del	NCBI36
NG_011845.2:g.10002del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.525del MANE Select	ENSP00000264595.2:p.Ser176GlnfsTer13
ENST00000264595.6:c.525del	ENSP00000264595.2:p.Ser176GlnfsTer13
ENST00000502310.5:c.180del	ENSP00000423798.1:p.Ser61GlnfsTer13
ENST00000506853.5:n.559del
ENST00000510635.1:c.221del
ENST00000510955.5:n.446del
NM_000027.3:c.525del	NP_000018.2:p.Ser176GlnfsTer13
NM_001171988.1:c.525del	NP_001165459.1:p.Ser176GlnfsTer13
NR_033655.1:n.653del
XM_006714123.2:c.525del	XP_006714186.1:p.Ser176GlnfsTer13
XR_001741155.2:n.619del
NM_000027.4:c.525del MANE Select	NP_000018.2:p.Ser176GlnfsTer13
NM_001171988.2:c.525del	NP_001165459.1:p.Ser176GlnfsTer13
NR_033655.2:n.587del