Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87958014_87958016delinsTCT , CM000672.2:g.87958014_87958016delinsTCT	GRCh38
NC_000010.10:g.89717771_89717773delinsTCT , CM000672.1:g.89717771_89717773delinsTCT	GRCh37
NC_000010.9:g.89707751_89707753delinsTCT	NCBI36
NG_007466.2:g.99576_99578delinsTCT , LRG_311:g.99576_99578delinsTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.796_798delinsTCT	ENSP00000514759.2:p.Lys266Ser
ENST00000710265.1:c.796_798delinsTCT	ENSP00000518161.1:p.Lys266Ser
ENST00000472832.3:c.796_798delinsTCT	ENSP00000483066.2:p.Lys266Ser
ENST00000688158.2:n.1531_1533delinsTCT
ENST00000688922.2:c.626_628delinsTCT	ENSP00000508742.2:n.626_628delinsTCT
ENST00000700021.1:c.751_753delinsTCT	ENSP00000514757.1:p.Lys251Ser
ENST00000700022.1:c.135_137delinsTCT	ENSP00000514758.1:n.135_137delinsTCT
ENST00000700023.1:n.1954_1956delinsTCT
ENST00000700024.1:n.2188_2190delinsTCT
ENST00000700025.1:n.1565_1567delinsTCT
ENST00000700026.1:n.433_435delinsTCT
ENST00000700029.1:c.630_632delinsTCT
ENST00000706954.1:c.796_798delinsTCT	ENSP00000516674.1:p.Lys266Ser
ENST00000706955.1:c.831_833delinsTCT	ENSP00000516675.1:n.831_833delinsTCT
ENST00000686459.1:c.382_384delinsTCT	ENSP00000508909.1:n.382_384delinsTCT
ENST00000688158.1:c.907_909delinsTCT	ENSP00000509254.1:n.907_909delinsTCT
ENST00000688308.1:c.796_798delinsTCT	ENSP00000508752.1:p.Lys266Ser
ENST00000688922.1:c.717_719delinsTCT
ENST00000693560.1:c.1315_1317delinsTCT	ENSP00000509861.1:p.Lys439Ser
ENST00000371953.8:c.796_798delinsTCT MANE Select	ENSP00000361021.3:p.Lys266Ser
ENST00000371953.7:c.796_798delinsTCT	ENSP00000361021.3:p.Lys266Ser
ENST00000472832.2:c.223_225delinsTCT	ENSP00000483066.1:p.Lys75Ser
NM_000314.5:c.796_798delinsTCT	NP_000305.3:p.Lys266Ser
NM_000314.6:c.796_798delinsTCT	NP_000305.3:p.Lys266Ser
NM_001304717.2:c.1315_1317delinsTCT	NP_001291646.2:p.Lys439Ser
NM_001304718.1:c.205_207delinsTCT	NP_001291647.1:p.Lys69Ser
XM_006717926.2:c.751_753delinsTCT	XP_006717989.1:p.Lys251Ser
XM_011539981.1:c.796_798delinsTCT	XP_011538283.1:p.Lys266Ser
XM_011539982.1:c.700_702delinsTCT	XP_011538284.1:p.Lys234Ser
XR_945791.1:n.1366_1368delinsTCT
NM_000314.7:c.796_798delinsTCT	NP_000305.3:p.Lys266Ser
NM_001304717.5:c.1315_1317delinsTCT	NP_001291646.4:p.Lys439Ser
NM_001304718.2:c.205_207delinsTCT	NP_001291647.1:p.Lys69Ser
NM_000314.8:c.796_798delinsTCT MANE Select	NP_000305.3:p.Lys266Ser