Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957972_87957974delinsTAA , CM000672.2:g.87957972_87957974delinsTAA	GRCh38
NC_000010.10:g.89717729_89717731delinsTAA , CM000672.1:g.89717729_89717731delinsTAA	GRCh37
NC_000010.9:g.89707709_89707711delinsTAA	NCBI36
NG_007466.2:g.99534_99536delinsTAA , LRG_311:g.99534_99536delinsTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.754_756delinsTAA	ENSP00000514759.2:p.Asp252Ter
ENST00000710265.1:c.754_756delinsTAA	ENSP00000518161.1:p.Asp252Ter
ENST00000472832.3:c.754_756delinsTAA	ENSP00000483066.2:p.Asp252Ter
ENST00000688158.2:n.1489_1491delinsTAA
ENST00000688922.2:c.584_586delinsTAA	ENSP00000508742.2:n.584_586delinsTAA
ENST00000700021.1:c.709_711delinsTAA	ENSP00000514757.1:p.Asp237Ter
ENST00000700022.1:c.93_95delinsTAA	ENSP00000514758.1:n.93_95delinsTAA
ENST00000700023.1:n.1912_1914delinsTAA
ENST00000700024.1:n.2146_2148delinsTAA
ENST00000700025.1:n.1523_1525delinsTAA
ENST00000700026.1:n.391_393delinsTAA
ENST00000700029.1:c.588_590delinsTAA
ENST00000706954.1:c.754_756delinsTAA	ENSP00000516674.1:p.Asp252Ter
ENST00000706955.1:c.789_791delinsTAA	ENSP00000516675.1:n.789_791delinsTAA
ENST00000686459.1:c.340_342delinsTAA	ENSP00000508909.1:n.340_342delinsTAA
ENST00000688158.1:c.865_867delinsTAA	ENSP00000509254.1:n.865_867delinsTAA
ENST00000688308.1:c.754_756delinsTAA	ENSP00000508752.1:p.Asp252Ter
ENST00000688922.1:c.675_677delinsTAA
ENST00000693560.1:c.1273_1275delinsTAA	ENSP00000509861.1:p.Asp425Ter
ENST00000371953.8:c.754_756delinsTAA MANE Select	ENSP00000361021.3:p.Asp252Ter
ENST00000371953.7:c.754_756delinsTAA	ENSP00000361021.3:p.Asp252Ter
ENST00000472832.2:c.181_183delinsTAA	ENSP00000483066.1:p.Asp61Ter
NM_000314.5:c.754_756delinsTAA	NP_000305.3:p.Asp252Ter
NM_000314.6:c.754_756delinsTAA	NP_000305.3:p.Asp252Ter
NM_001304717.2:c.1273_1275delinsTAA	NP_001291646.2:p.Asp425Ter
NM_001304718.1:c.163_165delinsTAA	NP_001291647.1:p.Asp55Ter
XM_006717926.2:c.709_711delinsTAA	XP_006717989.1:p.Asp237Ter
XM_011539981.1:c.754_756delinsTAA	XP_011538283.1:p.Asp252Ter
XM_011539982.1:c.658_660delinsTAA	XP_011538284.1:p.Asp220Ter
XR_945791.1:n.1324_1326delinsTAA
NM_000314.7:c.754_756delinsTAA	NP_000305.3:p.Asp252Ter
NM_001304717.5:c.1273_1275delinsTAA	NP_001291646.4:p.Asp425Ter
NM_001304718.2:c.163_165delinsTAA	NP_001291647.1:p.Asp55Ter
NM_000314.8:c.754_756delinsTAA MANE Select	NP_000305.3:p.Asp252Ter