Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957974_87957978delinsTATCA , CM000672.2:g.87957974_87957978delinsTATCA	GRCh38
NC_000010.10:g.89717731_89717735delinsTATCA , CM000672.1:g.89717731_89717735delinsTATCA	GRCh37
NC_000010.9:g.89707711_89707715delinsTATCA	NCBI36
NG_007466.2:g.99536_99540delinsTATCA , LRG_311:g.99536_99540delinsTATCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.756_760delinsTATCA	ENSP00000514759.2:p.Asp252=
ENST00000710265.1:c.756_760delinsTATCA	ENSP00000518161.1:p.Asp252=
ENST00000472832.3:c.756_760delinsTATCA	ENSP00000483066.2:p.Asp252=
ENST00000688158.2:n.1491_1495delinsTATCA
ENST00000688922.2:c.586_590delinsTATCA	ENSP00000508742.2:n.586_590delinsTATCA
ENST00000700021.1:c.711_715delinsTATCA	ENSP00000514757.1:p.Asp237=
ENST00000700022.1:c.95_99delinsTATCA	ENSP00000514758.1:n.95_99delinsTATCA
ENST00000700023.1:n.1914_1918delinsTATCA
ENST00000700024.1:n.2148_2152delinsTATCA
ENST00000700025.1:n.1525_1529delinsTATCA
ENST00000700026.1:n.393_397delinsTATCA
ENST00000700029.1:c.590_594delinsTATCA
ENST00000706954.1:c.756_760delinsTATCA	ENSP00000516674.1:p.Asp252=
ENST00000706955.1:c.791_795delinsTATCA	ENSP00000516675.1:n.791_795delinsTATCA
ENST00000686459.1:c.342_346delinsTATCA	ENSP00000508909.1:n.342_346delinsTATCA
ENST00000688158.1:c.867_871delinsTATCA	ENSP00000509254.1:n.867_871delinsTATCA
ENST00000688308.1:c.756_760delinsTATCA	ENSP00000508752.1:p.Asp252=
ENST00000688922.1:c.677_681delinsTATCA
ENST00000693560.1:c.1275_1279delinsTATCA	ENSP00000509861.1:p.Asp425=
ENST00000371953.8:c.756_760delinsTATCA MANE Select	ENSP00000361021.3:p.Asp252=
ENST00000371953.7:c.756_760delinsTATCA	ENSP00000361021.3:p.Asp252=
ENST00000472832.2:c.183_187delinsTATCA	ENSP00000483066.1:p.Asp61=
NM_000314.5:c.756_760delinsTATCA	NP_000305.3:p.Asp252=
NM_000314.6:c.756_760delinsTATCA	NP_000305.3:p.Asp252=
NM_001304717.2:c.1275_1279delinsTATCA	NP_001291646.2:p.Asp425=
NM_001304718.1:c.165_169delinsTATCA	NP_001291647.1:p.Asp55=
XM_006717926.2:c.711_715delinsTATCA	XP_006717989.1:p.Asp237=
XM_011539981.1:c.756_760delinsTATCA	XP_011538283.1:p.Asp252=
XM_011539982.1:c.660_664delinsTATCA	XP_011538284.1:p.Asp220=
XR_945791.1:n.1326_1330delinsTATCA
NM_000314.7:c.756_760delinsTATCA	NP_000305.3:p.Asp252=
NM_001304717.5:c.1275_1279delinsTATCA	NP_001291646.4:p.Asp425=
NM_001304718.2:c.165_169delinsTATCA	NP_001291647.1:p.Asp55=
NM_000314.8:c.756_760delinsTATCA MANE Select	NP_000305.3:p.Asp252=