Canonical Allele Identifier: CA1515648162

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177441828_177441830delinsGGC , CM000666.2:g.177441828_177441830delinsGGC	GRCh38
NC_000004.11:g.178362982_178362984delinsGGC , CM000666.1:g.178362982_178362984delinsGGC	GRCh37
NC_000004.10:g.178599976_178599978delinsGGC	NCBI36
NG_011845.2:g.5674_5676delinsGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.127+419_127+421delinsGCC MANE Select	ENSP00000264595.2:n.127+419_127+421delinsGCC
ENST00000264595.6:c.127+419_127+421delinsGCC	ENSP00000264595.2:n.127+419_127+421delinsGCC
ENST00000506853.5:n.161+419_161+421delinsGCC
ENST00000510955.5:n.161+419_161+421delinsGCC
ENST00000511231.1:n.161+419_161+421delinsGCC
NM_000027.3:c.127+419_127+421delinsGCC	NP_000018.2:n.127+419_127+421delinsGCC
NM_001171988.1:c.127+419_127+421delinsGCC	NP_001165459.1:n.127+419_127+421delinsGCC
NR_033655.1:n.255+419_255+421delinsGCC
XM_006714123.2:c.127+419_127+421delinsGCC	XP_006714186.1:n.127+419_127+421delinsGCC
XR_001741155.2:n.221+419_221+421delinsGCC
NM_000027.4:c.127+419_127+421delinsGCC MANE Select	NP_000018.2:n.127+419_127+421delinsGCC
NM_001171988.2:c.127+419_127+421delinsGCC	NP_001165459.1:n.127+419_127+421delinsGCC
NR_033655.2:n.189+419_189+421delinsGCC