Canonical Allele Identifier: CA1515649194

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442262_177442263delinsAT , CM000666.2:g.177442262_177442263delinsAT	GRCh38
NC_000004.11:g.178363416_178363417delinsAT , CM000666.1:g.178363416_178363417delinsAT	GRCh37
NC_000004.10:g.178600410_178600411delinsAT	NCBI36
NG_011845.2:g.5241_5242delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.113_114delinsAT MANE Select	ENSP00000264595.2:p.Asn38=
ENST00000264595.6:c.113_114delinsAT	ENSP00000264595.2:p.Asn38=
ENST00000506853.5:n.147_148delinsAT
ENST00000510955.5:n.147_148delinsAT
ENST00000511231.1:n.147_148delinsAT
NM_000027.3:c.113_114delinsAT	NP_000018.2:p.Asn38=
NM_001171988.1:c.113_114delinsAT	NP_001165459.1:p.Asn38=
NR_033655.1:n.241_242delinsAT
XM_006714123.2:c.113_114delinsAT	XP_006714186.1:p.Asn38=
XR_001741155.2:n.207_208delinsAT
NM_000027.4:c.113_114delinsAT MANE Select	NP_000018.2:p.Asn38=
NM_001171988.2:c.113_114delinsAT	NP_001165459.1:p.Asn38=
NR_033655.2:n.175_176delinsAT