Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894860_38894869del , CM000665.2:g.38894860_38894869del	GRCh38
NC_000003.11:g.38936351_38936360del , CM000665.1:g.38936351_38936360del	GRCh37
NC_000003.10:g.38911355_38911364del	NCBI36
NG_033859.1:g.60694_60703del
NG_033859.2:g.162119_162128del

Transcript Alleles

HGVS	Amino-acid change
ENST00000302328.9:c.2500_2509del MANE Select	ENSP00000307599.3:p.Leu834IlefsTer10
ENST00000668754.1:c.2500_2509del	ENSP00000499569.1:p.Leu834IlefsTer10
ENST00000675223.1:c.2500_2509del	ENSP00000502481.1:p.Leu834IlefsTer10
ENST00000675672.1:c.2500_2509del	ENSP00000502446.1:p.Leu834IlefsTer10
ENST00000675892.1:c.2320_2329del	ENSP00000502318.1:p.Leu774IlefsTer10
ENST00000676045.1:c.2544_2553del	ENSP00000501685.1:n.2544_2553del
ENST00000676176.1:c.2119_2128del	ENSP00000501891.1:p.Leu707IlefsTer10
ENST00000302328.7:c.2500_2509del	ENSP00000307599.3:p.Leu834IlefsTer10
ENST00000444237.2:c.2500_2509del	ENSP00000408028.2:p.Leu834IlefsTer10
ENST00000456224.7:c.2500_2509del	ENSP00000416757.3:p.Leu834IlefsTer10
NM_001287223.1:c.2500_2509del	NP_001274152.1:p.Leu834IlefsTer10
NM_014139.2:c.2500_2509del	NP_054858.2:p.Leu834IlefsTer10
XM_011533320.1:c.2500_2509del	XP_011531622.1:p.Leu834IlefsTer10
XM_011533321.1:c.1837_1846del	XP_011531623.1:p.Leu613IlefsTer10
XM_011533322.1:c.1048_1057del	XP_011531624.1:p.Leu350IlefsTer10
NM_001349253.1:c.2500_2509del	NP_001336182.1:p.Leu834IlefsTer10
XM_011533321.2:c.1837_1846del	XP_011531623.1:p.Leu613IlefsTer10
XM_017005647.1:c.2875_2884del	XP_016861136.1:p.Leu959IlefsTer10
XM_017005648.1:c.2302_2311del	XP_016861137.1:p.Leu768IlefsTer10
XM_017005650.1:c.2500_2509del	XP_016861139.1:p.Leu834IlefsTer10
XM_017005651.1:c.2227_2236del	XP_016861140.1:p.Leu743IlefsTer10
XM_017005652.1:c.2500_2509del	XP_016861141.1:p.Leu834IlefsTer10
XM_017005653.1:c.904_913del	XP_016861142.1:p.Leu302IlefsTer10
NM_001349253.2:c.2500_2509del MANE Select	NP_001336182.1:p.Leu834IlefsTer10
NM_014139.3:c.2500_2509del	NP_054858.2:p.Leu834IlefsTer10