Canonical Allele Identifier: CA2510319933

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437411_177437412insCTAT , CM000666.2:g.177437411_177437412insCTAT	GRCh38
NC_000004.11:g.178358565_178358566insCTAT , CM000666.1:g.178358565_178358566insCTAT	GRCh37
NC_000004.10:g.178595559_178595560insCTAT	NCBI36
NG_011845.2:g.10093_10094insTAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.616_617insTAGA MANE Select	ENSP00000264595.2:p.Thr206IlefsTer10
ENST00000264595.6:c.616_617insTAGA	ENSP00000264595.2:p.Thr206IlefsTer10
ENST00000502310.5:c.271_272insTAGA	ENSP00000423798.1:p.Thr91IlefsTer16
ENST00000506853.5:n.650_651insTAGA
ENST00000510635.1:c.312_313insTAGA
ENST00000510955.5:n.537_538insTAGA
NM_000027.3:c.616_617insTAGA	NP_000018.2:p.Thr206IlefsTer10
NM_001171988.1:c.616_617insTAGA	NP_001165459.1:p.Thr206IlefsTer10
NR_033655.1:n.744_745insTAGA
XM_006714123.2:c.616_617insTAGA	XP_006714186.1:p.Thr206IlefsTer10
XR_001741155.2:n.710_711insTAGA
NM_000027.4:c.616_617insTAGA MANE Select	NP_000018.2:p.Thr206IlefsTer10
NM_001171988.2:c.616_617insTAGA	NP_001165459.1:p.Thr206IlefsTer10
NR_033655.2:n.678_679insTAGA