Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957951_87957952delinsTC , CM000672.2:g.87957951_87957952delinsTC	GRCh38
NC_000010.10:g.89717708_89717709delinsTC , CM000672.1:g.89717708_89717709delinsTC	GRCh37
NC_000010.9:g.89707688_89707689delinsTC	NCBI36
NG_007466.2:g.99513_99514delinsTC , LRG_311:g.99513_99514delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.733_734delinsTC	ENSP00000514759.2:p.Gln245Ser
ENST00000710265.1:c.733_734delinsTC	ENSP00000518161.1:p.Gln245Ser
ENST00000472832.3:c.733_734delinsTC	ENSP00000483066.2:p.Gln245Ser
ENST00000688158.2:n.1468_1469delinsTC
ENST00000688922.2:c.563_564delinsTC	ENSP00000508742.2:n.563_564delinsTC
ENST00000700021.1:c.688_689delinsTC	ENSP00000514757.1:p.Gln230Ser
ENST00000700022.1:c.72_73delinsTC	ENSP00000514758.1:n.72_73delinsTC
ENST00000700023.1:n.1891_1892delinsTC
ENST00000700024.1:n.2125_2126delinsTC
ENST00000700025.1:n.1502_1503delinsTC
ENST00000700026.1:n.370_371delinsTC
ENST00000700029.1:c.567_568delinsTC
ENST00000706954.1:c.733_734delinsTC	ENSP00000516674.1:p.Gln245Ser
ENST00000706955.1:c.768_769delinsTC	ENSP00000516675.1:n.768_769delinsTC
ENST00000686459.1:c.319_320delinsTC	ENSP00000508909.1:n.319_320delinsTC
ENST00000688158.1:c.844_845delinsTC	ENSP00000509254.1:n.844_845delinsTC
ENST00000688308.1:c.733_734delinsTC	ENSP00000508752.1:p.Gln245Ser
ENST00000688922.1:c.654_655delinsTC
ENST00000693560.1:c.1252_1253delinsTC	ENSP00000509861.1:p.Gln418Ser
ENST00000371953.8:c.733_734delinsTC MANE Select	ENSP00000361021.3:p.Gln245Ser
ENST00000371953.7:c.733_734delinsTC	ENSP00000361021.3:p.Gln245Ser
ENST00000472832.2:c.160_161delinsTC	ENSP00000483066.1:p.Gln54Ser
NM_000314.5:c.733_734delinsTC	NP_000305.3:p.Gln245Ser
NM_000314.6:c.733_734delinsTC	NP_000305.3:p.Gln245Ser
NM_001304717.2:c.1252_1253delinsTC	NP_001291646.2:p.Gln418Ser
NM_001304718.1:c.142_143delinsTC	NP_001291647.1:p.Gln48Ser
XM_006717926.2:c.688_689delinsTC	XP_006717989.1:p.Gln230Ser
XM_011539981.1:c.733_734delinsTC	XP_011538283.1:p.Gln245Ser
XM_011539982.1:c.637_638delinsTC	XP_011538284.1:p.Gln213Ser
XR_945791.1:n.1303_1304delinsTC
NM_000314.7:c.733_734delinsTC	NP_000305.3:p.Gln245Ser
NM_001304717.5:c.1252_1253delinsTC	NP_001291646.4:p.Gln418Ser
NM_001304718.2:c.142_143delinsTC	NP_001291647.1:p.Gln48Ser
NM_000314.8:c.733_734delinsTC MANE Select	NP_000305.3:p.Gln245Ser