Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34887035_34887036insGG , CM000683.2:g.34887035_34887036insGG	GRCh38
NC_000021.8:g.36259332_36259333insGG , CM000683.1:g.36259332_36259333insGG	GRCh37
NC_000021.7:g.35181202_35181203insGG	NCBI36
NG_011402.2:g.1102677_1102678insCC , LRG_482:g.1102677_1102678insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.159_160insCC MANE Select	ENSP00000501943.1:p.Glu54ProfsTer19
ENST00000300305.7:c.159_160insCC	ENSP00000300305.3:p.Glu54ProfsTer19
ENST00000344691.8:c.78_79insCC	ENSP00000340690.4:p.Glu27ProfsTer19
ENST00000358356.9:c.78_79insCC	ENSP00000351123.5:p.Glu27ProfsTer19
ENST00000399237.6:c.123_124insCC	ENSP00000382182.2:p.Glu42ProfsTer19
ENST00000399240.5:c.78_79insCC	ENSP00000382184.1:p.Glu27ProfsTer19
ENST00000437180.5:c.159_160insCC	ENSP00000409227.1:p.Glu54ProfsTer19
ENST00000455571.5:c.120_121insCC	ENSP00000388189.1:p.Glu41ProfsTer19
ENST00000482318.5:c.59-6322_59-6321insCC	ENSP00000477067.1:n.59-6322_59-6321insCC
NM_001001890.2:c.78_79insCC	NP_001001890.1:p.Glu27ProfsTer19
NM_001122607.1:c.78_79insCC	NP_001116079.1:p.Glu27ProfsTer19
NM_001754.4:c.159_160insCC , LRG_482t1:c.159_160insCC	NP_001745.2:p.Glu54ProfsTer19
XM_005261068.3:c.123_124insCC	XP_005261125.1:p.Glu42ProfsTer19
XM_005261069.3:c.159_160insCC	XP_005261126.1:p.Glu54ProfsTer19
XM_011529766.1:c.159_160insCC	XP_011528068.1:p.Glu54ProfsTer19
XM_011529767.1:c.120_121insCC	XP_011528069.1:p.Glu41ProfsTer19
XM_011529768.1:c.120_121insCC	XP_011528070.1:p.Glu41ProfsTer19
XM_011529770.1:c.159_160insCC	XP_011528072.1:p.Glu54ProfsTer19
XR_937576.1:n.338_339insCC
XM_005261069.4:c.159_160insCC	XP_005261126.1:p.Glu54ProfsTer19
XM_011529766.2:c.159_160insCC	XP_011528068.1:p.Glu54ProfsTer19
XM_011529767.2:c.120_121insCC	XP_011528069.1:p.Glu41ProfsTer19
XM_011529768.2:c.120_121insCC	XP_011528070.1:p.Glu41ProfsTer19
XM_011529770.2:c.159_160insCC	XP_011528072.1:p.Glu54ProfsTer19
XM_017028487.1:c.6_7insCC	XP_016883976.1:p.Glu3ProfsTer19
XR_937576.2:n.385_386insCC
NM_001001890.3:c.78_79insCC	NP_001001890.1:p.Glu27ProfsTer19
NM_001122607.2:c.78_79insCC	NP_001116079.1:p.Glu27ProfsTer19
NM_001754.5:c.159_160insCC MANE Select	NP_001745.2:p.Glu54ProfsTer19