Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965505_87965506del , CM000672.2:g.87965505_87965506del	GRCh38
NC_000010.10:g.89725262_89725263del , CM000672.1:g.89725262_89725263del	GRCh37
NC_000010.9:g.89715242_89715243del	NCBI36
NG_007466.2:g.107067_107068del , LRG_311:g.107067_107068del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.33_34del	ENSP00000514759.2:n.33_34del
ENST00000710265.1:c.274_275del	ENSP00000518161.1:n.274_275del
ENST00000688158.2:n.1980_1981del
ENST00000688922.2:c.1075_1076del	ENSP00000508742.2:n.1075_1076del
ENST00000700021.1:c.33_34del	ENSP00000514757.1:n.33_34del
ENST00000700022.1:c.584_585del	ENSP00000514758.1:n.584_585del
ENST00000700023.1:n.2403_2404del
ENST00000700024.1:n.2637_2638del
ENST00000706954.1:c.33_34del	ENSP00000516674.1:n.33_34del
ENST00000706955.1:c.1280_1281del	ENSP00000516675.1:n.1280_1281del
ENST00000686459.1:c.831_832del	ENSP00000508909.1:n.831_832del
ENST00000688158.1:c.1356_1357del	ENSP00000509254.1:n.1356_1357del
ENST00000688308.1:c.33_34del	ENSP00000508752.1:n.33_34del
ENST00000688922.1:c.1166_1167del
ENST00000693560.1:c.33_34del	ENSP00000509861.1:n.33_34del
ENST00000371953.8:c.33_34del MANE Select	ENSP00000361021.3:n.33_34del
ENST00000371953.7:c.33_34del	ENSP00000361021.3:n.33_34del
NM_000314.5:c.33_34del	NP_000305.3:n.33_34del
NM_000314.6:c.33_34del	NP_000305.3:n.33_34del
NM_001304717.2:c.33_34del	NP_001291646.2:n.33_34del
NM_001304718.1:c.33_34del	NP_001291647.1:n.33_34del
XM_006717926.2:c.33_34del	XP_006717989.1:n.33_34del
XM_011539982.1:c.33_34del	XP_011538284.1:n.33_34del
XR_945791.1:n.1815_1816del
NM_000314.7:c.33_34del	NP_000305.3:n.33_34del
NM_001304717.5:c.33_34del	NP_001291646.4:n.33_34del
NM_001304718.2:c.33_34del	NP_001291647.1:n.33_34del
NM_000314.8:c.33_34del MANE Select	NP_000305.3:n.33_34del

HGVS	Amino-acid Change
ENST00000700029.2:c.33_34del	ENSP00000514759.2:n.33_34del
ENST00000710265.1:c.274_275del	ENSP00000518161.1:n.274_275del
ENST00000688158.2:n.1980_1981del
ENST00000688922.2:c.1075_1076del	ENSP00000508742.2:n.1075_1076del
ENST00000700021.1:c.33_34del	ENSP00000514757.1:n.33_34del
ENST00000700022.1:c.584_585del	ENSP00000514758.1:n.584_585del
ENST00000700023.1:n.2403_2404del
ENST00000700024.1:n.2637_2638del
ENST00000706954.1:c.33_34del	ENSP00000516674.1:n.33_34del
ENST00000706955.1:c.1280_1281del	ENSP00000516675.1:n.1280_1281del
ENST00000686459.1:c.831_832del	ENSP00000508909.1:n.831_832del
ENST00000688158.1:c.1356_1357del	ENSP00000509254.1:n.1356_1357del
ENST00000688308.1:c.33_34del	ENSP00000508752.1:n.33_34del
ENST00000688922.1:c.1166_1167del
ENST00000693560.1:c.33_34del	ENSP00000509861.1:n.33_34del
ENST00000371953.8:c.33_34del MANE Select	ENSP00000361021.3:n.33_34del
ENST00000371953.7:c.33_34del	ENSP00000361021.3:n.33_34del
NM_000314.5:c.33_34del	NP_000305.3:n.33_34del
NM_000314.6:c.33_34del	NP_000305.3:n.33_34del
NM_001304717.2:c.33_34del	NP_001291646.2:n.33_34del
NM_001304718.1:c.33_34del	NP_001291647.1:n.33_34del
XM_006717926.2:c.33_34del	XP_006717989.1:n.33_34del
XM_011539982.1:c.33_34del	XP_011538284.1:n.33_34del
XR_945791.1:n.1815_1816del
NM_000314.7:c.33_34del	NP_000305.3:n.33_34del
NM_001304717.5:c.33_34del	NP_001291646.4:n.33_34del
NM_001304718.2:c.33_34del	NP_001291647.1:n.33_34del
NM_000314.8:c.33_34del MANE Select	NP_000305.3:n.33_34del