Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87966827_87966829delinsCAA , CM000672.2:g.87966827_87966829delinsCAA	GRCh38
NC_000010.10:g.89726584_89726586delinsCAA , CM000672.1:g.89726584_89726586delinsCAA	GRCh37
NC_000010.9:g.89716564_89716566delinsCAA	NCBI36
NG_007466.2:g.108389_108391delinsCAA , LRG_311:g.108389_108391delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1355_1357delinsCAA	ENSP00000514759.2:n.1355_1357delinsCAA
ENST00000710265.1:c.1596_1598delinsCAA	ENSP00000518161.1:n.1596_1598delinsCAA
ENST00000688158.2:n.3302_3304delinsCAA
ENST00000688922.2:c.2397_2399delinsCAA	ENSP00000508742.2:n.2397_2399delinsCAA
ENST00000700021.1:c.1355_1357delinsCAA	ENSP00000514757.1:n.1355_1357delinsCAA
ENST00000700024.1:n.3959_3961delinsCAA
ENST00000706954.1:c.1355_1357delinsCAA	ENSP00000516674.1:n.1355_1357delinsCAA
ENST00000706955.1:c.2602_2604delinsCAA	ENSP00000516675.1:n.2602_2604delinsCAA
ENST00000688158.1:c.2678_2680delinsCAA	ENSP00000509254.1:n.2678_2680delinsCAA
ENST00000688308.1:c.1355_1357delinsCAA	ENSP00000508752.1:n.1355_1357delinsCAA
ENST00000688922.1:c.2488_2490delinsCAA
ENST00000693560.1:c.1355_1357delinsCAA	ENSP00000509861.1:n.1355_1357delinsCAA
ENST00000371953.8:c.1355_1357delinsCAA MANE Select	ENSP00000361021.3:n.1355_1357delinsCAA
ENST00000371953.7:c.1355_1357delinsCAA	ENSP00000361021.3:n.1355_1357delinsCAA
NM_000314.5:c.1355_1357delinsCAA	NP_000305.3:n.1355_1357delinsCAA
NM_000314.6:c.1355_1357delinsCAA	NP_000305.3:n.1355_1357delinsCAA
NM_001304717.2:c.1355_1357delinsCAA	NP_001291646.2:n.1355_1357delinsCAA
NM_001304718.1:c.1355_1357delinsCAA	NP_001291647.1:n.1355_1357delinsCAA
XM_006717926.2:c.1355_1357delinsCAA	XP_006717989.1:n.1355_1357delinsCAA
XM_011539982.1:c.1355_1357delinsCAA	XP_011538284.1:n.1355_1357delinsCAA
XR_945791.1:n.3137_3139delinsCAA
NM_000314.7:c.1355_1357delinsCAA	NP_000305.3:n.1355_1357delinsCAA
NM_001304717.5:c.1355_1357delinsCAA	NP_001291646.4:n.1355_1357delinsCAA
NM_001304718.2:c.1355_1357delinsCAA	NP_001291647.1:n.1355_1357delinsCAA
NM_000314.8:c.1355_1357delinsCAA MANE Select	NP_000305.3:n.1355_1357delinsCAA

HGVS	Amino-acid Change
ENST00000700029.2:c.1355_1357delinsCAA	ENSP00000514759.2:n.1355_1357delinsCAA
ENST00000710265.1:c.1596_1598delinsCAA	ENSP00000518161.1:n.1596_1598delinsCAA
ENST00000688158.2:n.3302_3304delinsCAA
ENST00000688922.2:c.2397_2399delinsCAA	ENSP00000508742.2:n.2397_2399delinsCAA
ENST00000700021.1:c.1355_1357delinsCAA	ENSP00000514757.1:n.1355_1357delinsCAA
ENST00000700024.1:n.3959_3961delinsCAA
ENST00000706954.1:c.1355_1357delinsCAA	ENSP00000516674.1:n.1355_1357delinsCAA
ENST00000706955.1:c.2602_2604delinsCAA	ENSP00000516675.1:n.2602_2604delinsCAA
ENST00000688158.1:c.2678_2680delinsCAA	ENSP00000509254.1:n.2678_2680delinsCAA
ENST00000688308.1:c.1355_1357delinsCAA	ENSP00000508752.1:n.1355_1357delinsCAA
ENST00000688922.1:c.2488_2490delinsCAA
ENST00000693560.1:c.1355_1357delinsCAA	ENSP00000509861.1:n.1355_1357delinsCAA
ENST00000371953.8:c.1355_1357delinsCAA MANE Select	ENSP00000361021.3:n.1355_1357delinsCAA
ENST00000371953.7:c.1355_1357delinsCAA	ENSP00000361021.3:n.1355_1357delinsCAA
NM_000314.5:c.1355_1357delinsCAA	NP_000305.3:n.1355_1357delinsCAA
NM_000314.6:c.1355_1357delinsCAA	NP_000305.3:n.1355_1357delinsCAA
NM_001304717.2:c.1355_1357delinsCAA	NP_001291646.2:n.1355_1357delinsCAA
NM_001304718.1:c.1355_1357delinsCAA	NP_001291647.1:n.1355_1357delinsCAA
XM_006717926.2:c.1355_1357delinsCAA	XP_006717989.1:n.1355_1357delinsCAA
XM_011539982.1:c.1355_1357delinsCAA	XP_011538284.1:n.1355_1357delinsCAA
XR_945791.1:n.3137_3139delinsCAA
NM_000314.7:c.1355_1357delinsCAA	NP_000305.3:n.1355_1357delinsCAA
NM_001304717.5:c.1355_1357delinsCAA	NP_001291646.4:n.1355_1357delinsCAA
NM_001304718.2:c.1355_1357delinsCAA	NP_001291647.1:n.1355_1357delinsCAA
NM_000314.8:c.1355_1357delinsCAA MANE Select	NP_000305.3:n.1355_1357delinsCAA