Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933099_87933100delinsAT , CM000672.2:g.87933099_87933100delinsAT	GRCh38
NC_000010.10:g.89692856_89692857delinsAT , CM000672.1:g.89692856_89692857delinsAT	GRCh37
NC_000010.9:g.89682836_89682837delinsAT	NCBI36
NG_007466.2:g.74661_74662delinsAT , LRG_311:g.74661_74662delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.340_341delinsAT	ENSP00000514759.2:p.Glu114Ile
ENST00000710265.1:c.340_341delinsAT	ENSP00000518161.1:p.Glu114Ile
ENST00000472832.3:c.340_341delinsAT	ENSP00000483066.2:p.Glu114Ile
ENST00000688158.2:n.1075_1076delinsAT
ENST00000688922.2:c.170_171delinsAT	ENSP00000508742.2:n.170_171delinsAT
ENST00000700021.1:c.295_296delinsAT	ENSP00000514757.1:p.Glu99Ile
ENST00000700022.1:c.340_341delinsAT	ENSP00000514758.1:p.Glu114Ile
ENST00000700029.1:c.174_175delinsAT
ENST00000706954.1:c.340_341delinsAT	ENSP00000516674.1:p.Glu114Ile
ENST00000706955.1:c.375_376delinsAT	ENSP00000516675.1:n.375_376delinsAT
ENST00000686459.1:c.340_341delinsAT	ENSP00000508909.1:p.Glu114Ile
ENST00000688158.1:c.451_452delinsAT	ENSP00000509254.1:n.451_452delinsAT
ENST00000688308.1:c.340_341delinsAT	ENSP00000508752.1:p.Glu114Ile
ENST00000688922.1:c.261_262delinsAT
ENST00000693560.1:c.859_860delinsAT	ENSP00000509861.1:p.Glu287Ile
ENST00000371953.8:c.340_341delinsAT MANE Select	ENSP00000361021.3:p.Glu114Ile
ENST00000371953.7:c.340_341delinsAT	ENSP00000361021.3:p.Glu114Ile
ENST00000498703.1:n.166_167delinsAT
ENST00000610634.1:c.238_239delinsAT	ENSP00000477517.1:p.Glu80Ile
NM_000314.5:c.340_341delinsAT	NP_000305.3:p.Glu114Ile
NM_000314.6:c.340_341delinsAT	NP_000305.3:p.Glu114Ile
NM_001304717.2:c.859_860delinsAT	NP_001291646.2:p.Glu287Ile
NM_001304718.1:c.-411_-410delinsAT	NP_001291647.1:n.-411_-410delinsAT
XM_006717926.2:c.295_296delinsAT	XP_006717989.1:p.Glu99Ile
XM_011539981.1:c.340_341delinsAT	XP_011538283.1:p.Glu114Ile
XM_011539982.1:c.244_245delinsAT	XP_011538284.1:p.Glu82Ile
XR_945789.1:n.1052_1053delinsAT
XR_945790.1:n.1052_1053delinsAT
XR_945791.1:n.1052_1053delinsAT
NM_000314.7:c.340_341delinsAT	NP_000305.3:p.Glu114Ile
NM_001304717.5:c.859_860delinsAT	NP_001291646.4:p.Glu287Ile
NM_001304718.2:c.-411_-410delinsAT	NP_001291647.1:n.-411_-410delinsAT
NM_000314.8:c.340_341delinsAT MANE Select	NP_000305.3:p.Glu114Ile