Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957951_87957953delinsTAA , CM000672.2:g.87957951_87957953delinsTAA	GRCh38
NC_000010.10:g.89717708_89717710delinsTAA , CM000672.1:g.89717708_89717710delinsTAA	GRCh37
NC_000010.9:g.89707688_89707690delinsTAA	NCBI36
NG_007466.2:g.99513_99515delinsTAA , LRG_311:g.99513_99515delinsTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.733_735delinsTAA	ENSP00000514759.2:p.Gln245Ter
ENST00000710265.1:c.733_735delinsTAA	ENSP00000518161.1:p.Gln245Ter
ENST00000472832.3:c.733_735delinsTAA	ENSP00000483066.2:p.Gln245Ter
ENST00000688158.2:n.1468_1470delinsTAA
ENST00000688922.2:c.563_565delinsTAA	ENSP00000508742.2:n.563_565delinsTAA
ENST00000700021.1:c.688_690delinsTAA	ENSP00000514757.1:p.Gln230Ter
ENST00000700022.1:c.72_74delinsTAA	ENSP00000514758.1:n.72_74delinsTAA
ENST00000700023.1:n.1891_1893delinsTAA
ENST00000700024.1:n.2125_2127delinsTAA
ENST00000700025.1:n.1502_1504delinsTAA
ENST00000700026.1:n.370_372delinsTAA
ENST00000700029.1:c.567_569delinsTAA
ENST00000706954.1:c.733_735delinsTAA	ENSP00000516674.1:p.Gln245Ter
ENST00000706955.1:c.768_770delinsTAA	ENSP00000516675.1:n.768_770delinsTAA
ENST00000686459.1:c.319_321delinsTAA	ENSP00000508909.1:n.319_321delinsTAA
ENST00000688158.1:c.844_846delinsTAA	ENSP00000509254.1:n.844_846delinsTAA
ENST00000688308.1:c.733_735delinsTAA	ENSP00000508752.1:p.Gln245Ter
ENST00000688922.1:c.654_656delinsTAA
ENST00000693560.1:c.1252_1254delinsTAA	ENSP00000509861.1:p.Gln418Ter
ENST00000371953.8:c.733_735delinsTAA MANE Select	ENSP00000361021.3:p.Gln245Ter
ENST00000371953.7:c.733_735delinsTAA	ENSP00000361021.3:p.Gln245Ter
ENST00000472832.2:c.160_162delinsTAA	ENSP00000483066.1:p.Gln54Ter
NM_000314.5:c.733_735delinsTAA	NP_000305.3:p.Gln245Ter
NM_000314.6:c.733_735delinsTAA	NP_000305.3:p.Gln245Ter
NM_001304717.2:c.1252_1254delinsTAA	NP_001291646.2:p.Gln418Ter
NM_001304718.1:c.142_144delinsTAA	NP_001291647.1:p.Gln48Ter
XM_006717926.2:c.688_690delinsTAA	XP_006717989.1:p.Gln230Ter
XM_011539981.1:c.733_735delinsTAA	XP_011538283.1:p.Gln245Ter
XM_011539982.1:c.637_639delinsTAA	XP_011538284.1:p.Gln213Ter
XR_945791.1:n.1303_1305delinsTAA
NM_000314.7:c.733_735delinsTAA	NP_000305.3:p.Gln245Ter
NM_001304717.5:c.1252_1254delinsTAA	NP_001291646.4:p.Gln418Ter
NM_001304718.2:c.142_144delinsTAA	NP_001291647.1:p.Gln48Ter
NM_000314.8:c.733_735delinsTAA MANE Select	NP_000305.3:p.Gln245Ter