Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87958020_87958021del , CM000672.2:g.87958020_87958021del	GRCh38
NC_000010.10:g.89717777_89717778del , CM000672.1:g.89717777_89717778del	GRCh37
NC_000010.9:g.89707757_89707758del	NCBI36
NG_007466.2:g.99582_99583del , LRG_311:g.99582_99583del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.801+1_801+2del	ENSP00000514759.2:n.801+1_801+2del
ENST00000710265.1:c.801+1_801+2del	ENSP00000518161.1:n.801+1_801+2del
ENST00000472832.3:c.801+1_801+2del	ENSP00000483066.2:n.801+1_801+2del
ENST00000688158.2:n.1536+1_1536+2del
ENST00000688922.2:c.631+1_631+2del	ENSP00000508742.2:n.631+1_631+2del
ENST00000700021.1:c.756+1_756+2del	ENSP00000514757.1:n.756+1_756+2del
ENST00000700022.1:c.140+1_140+2del	ENSP00000514758.1:n.140+1_140+2del
ENST00000700023.1:n.1959+1_1959+2del
ENST00000700024.1:n.2193+1_2193+2del
ENST00000700025.1:n.1570+1_1570+2del
ENST00000700026.1:n.438+1_438+2del
ENST00000700029.1:c.635+1_635+2del
ENST00000706954.1:c.801+1_801+2del	ENSP00000516674.1:n.801+1_801+2del
ENST00000706955.1:c.836+1_836+2del	ENSP00000516675.1:n.836+1_836+2del
ENST00000686459.1:c.387+1_387+2del	ENSP00000508909.1:n.387+1_387+2del
ENST00000688158.1:c.912+1_912+2del	ENSP00000509254.1:n.912+1_912+2del
ENST00000688308.1:c.801+1_801+2del	ENSP00000508752.1:n.801+1_801+2del
ENST00000688922.1:c.722+1_722+2del
ENST00000693560.1:c.1320+1_1320+2del	ENSP00000509861.1:n.1320+1_1320+2del
ENST00000371953.8:c.801+1_801+2del MANE Select	ENSP00000361021.3:n.801+1_801+2del
ENST00000371953.7:c.801+1_801+2del	ENSP00000361021.3:n.801+1_801+2del
ENST00000472832.2:c.228+1_228+2del	ENSP00000483066.1:n.228+1_228+2del
NM_000314.5:c.801+1_801+2del	NP_000305.3:n.801+1_801+2del
NM_000314.6:c.801+1_801+2del	NP_000305.3:n.801+1_801+2del
NM_001304717.2:c.1320+1_1320+2del	NP_001291646.2:n.1320+1_1320+2del
NM_001304718.1:c.210+1_210+2del	NP_001291647.1:n.210+1_210+2del
XM_006717926.2:c.756+1_756+2del	XP_006717989.1:n.756+1_756+2del
XM_011539981.1:c.801+1_801+2del	XP_011538283.1:n.801+1_801+2del
XM_011539982.1:c.705+1_705+2del	XP_011538284.1:n.705+1_705+2del
XR_945791.1:n.1371+1_1371+2del
NM_000314.7:c.801+1_801+2del	NP_000305.3:n.801+1_801+2del
NM_001304717.5:c.1320+1_1320+2del	NP_001291646.4:n.1320+1_1320+2del
NM_001304718.2:c.210+1_210+2del	NP_001291647.1:n.210+1_210+2del
NM_000314.8:c.801+1_801+2del MANE Select	NP_000305.3:n.801+1_801+2del