Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71444863_71444864delinsGC , CM000673.2:g.71444863_71444864delinsGC	GRCh38
NC_000011.9:g.71155909_71155910delinsGC , CM000673.1:g.71155909_71155910delinsGC	GRCh37
NC_000011.8:g.70833557_70833558delinsGC	NCBI36
NG_012655.2:g.8568_8569delinsGC , LRG_340:g.8568_8569delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.89_90delinsGC	ENSP00000435707.3:p.Gly30=
ENST00000526780.6:c.89_90delinsGC	ENSP00000435668.2:p.Gly30=
ENST00000527316.6:c.-157_-156delinsGC	ENSP00000435047.2:n.-157_-156delinsGC
ENST00000529990.6:c.-124_-123delinsGC	ENSP00000435058.2:n.-124_-123delinsGC
ENST00000682708.1:c.89_90delinsGC	ENSP00000506866.1:p.Gly30=
ENST00000682880.1:c.89_90delinsGC	ENSP00000507520.1:p.Gly30=
ENST00000683287.1:c.89_90delinsGC	ENSP00000507607.1:p.Gly30=
ENST00000683714.1:c.89_90delinsGC	ENSP00000508207.1:p.Gly30=
ENST00000683874.1:n.366_367delinsGC
ENST00000685320.1:c.-333-803_-333-802delinsGC	ENSP00000509319.1:n.-333-803_-333-802deli...
ENST00000690257.1:c.89_90delinsGC	ENSP00000510750.1:p.Gly30=
ENST00000355527.8:c.89_90delinsGC MANE Select	ENSP00000347717.4:p.Gly30=
ENST00000355527.7:c.89_90delinsGC	ENSP00000347717.3:p.Gly30=
ENST00000407721.6:c.89_90delinsGC	ENSP00000384739.2:p.Gly30=
ENST00000525346.5:c.89_90delinsGC	ENSP00000435707.2:p.Gly30=
ENST00000526780.5:c.89_90delinsGC	ENSP00000435668.1:p.Gly30=
ENST00000527316.5:c.89_90delinsGC	ENSP00000435047.1:p.Gly30=
ENST00000527452.1:c.89_90delinsGC	ENSP00000436007.1:p.Gly30=
ENST00000529990.5:c.-10_-9delinsGC	ENSP00000435058.1:n.-10_-9delinsGC
ENST00000531364.5:c.89_90delinsGC	ENSP00000432589.1:p.Gly30=
NM_001163817.1:c.89_90delinsGC	NP_001157289.1:p.Gly30=
NM_001360.2:c.89_90delinsGC , LRG_340t1:c.89_90delinsGC	NP_001351.2:p.Gly30=
XM_011544777.1:c.89_90delinsGC	XP_011543079.1:p.Gly30=
XM_011544777.2:c.89_90delinsGC	XP_011543079.1:p.Gly30=
NM_001163817.2:c.89_90delinsGC	NP_001157289.1:p.Gly30=
NM_001360.3:c.89_90delinsGC MANE Select	NP_001351.2:p.Gly30=