Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87958017_87958019delinsGTT , CM000672.2:g.87958017_87958019delinsGTT	GRCh38
NC_000010.10:g.89717774_89717776delinsGTT , CM000672.1:g.89717774_89717776delinsGTT	GRCh37
NC_000010.9:g.89707754_89707756delinsGTT	NCBI36
NG_007466.2:g.99579_99581delinsGTT , LRG_311:g.99579_99581delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.799_801delinsGTT	ENSP00000514759.2:p.Lys267Val
ENST00000710265.1:c.799_801delinsGTT	ENSP00000518161.1:p.Lys267Val
ENST00000472832.3:c.799_801delinsGTT	ENSP00000483066.2:p.Lys267Val
ENST00000688158.2:n.1534_1536delinsGTT
ENST00000688922.2:c.629_631delinsGTT	ENSP00000508742.2:n.629_631delinsGTT
ENST00000700021.1:c.754_756delinsGTT	ENSP00000514757.1:p.Lys252Val
ENST00000700022.1:c.138_140delinsGTT	ENSP00000514758.1:n.138_140delinsGTT
ENST00000700023.1:n.1957_1959delinsGTT
ENST00000700024.1:n.2191_2193delinsGTT
ENST00000700025.1:n.1568_1570delinsGTT
ENST00000700026.1:n.436_438delinsGTT
ENST00000700029.1:c.633_635delinsGTT
ENST00000706954.1:c.799_801delinsGTT	ENSP00000516674.1:p.Lys267Val
ENST00000706955.1:c.834_836delinsGTT	ENSP00000516675.1:n.834_836delinsGTT
ENST00000686459.1:c.385_387delinsGTT	ENSP00000508909.1:n.385_387delinsGTT
ENST00000688158.1:c.910_912delinsGTT	ENSP00000509254.1:n.910_912delinsGTT
ENST00000688308.1:c.799_801delinsGTT	ENSP00000508752.1:p.Lys267Val
ENST00000688922.1:c.720_722delinsGTT
ENST00000693560.1:c.1318_1320delinsGTT	ENSP00000509861.1:p.Lys440Val
ENST00000371953.8:c.799_801delinsGTT MANE Select	ENSP00000361021.3:p.Lys267Val
ENST00000371953.7:c.799_801delinsGTT	ENSP00000361021.3:p.Lys267Val
ENST00000472832.2:c.226_228delinsGTT	ENSP00000483066.1:p.Lys76Val
NM_000314.5:c.799_801delinsGTT	NP_000305.3:p.Lys267Val
NM_000314.6:c.799_801delinsGTT	NP_000305.3:p.Lys267Val
NM_001304717.2:c.1318_1320delinsGTT	NP_001291646.2:p.Lys440Val
NM_001304718.1:c.208_210delinsGTT	NP_001291647.1:p.Lys70Val
XM_006717926.2:c.754_756delinsGTT	XP_006717989.1:p.Lys252Val
XM_011539981.1:c.799_801delinsGTT	XP_011538283.1:p.Lys267Val
XM_011539982.1:c.703_705delinsGTT	XP_011538284.1:p.Lys235Val
XR_945791.1:n.1369_1371delinsGTT
NM_000314.7:c.799_801delinsGTT	NP_000305.3:p.Lys267Val
NM_001304717.5:c.1318_1320delinsGTT	NP_001291646.4:p.Lys440Val
NM_001304718.2:c.208_210delinsGTT	NP_001291647.1:p.Lys70Val
NM_000314.8:c.799_801delinsGTT MANE Select	NP_000305.3:p.Lys267Val