Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34886928_34886929insTGGT , CM000683.2:g.34886928_34886929insTGGT	GRCh38
NC_000021.8:g.36259225_36259226insTGGT , CM000683.1:g.36259225_36259226insTGGT	GRCh37
NC_000021.7:g.35181095_35181096insTGGT	NCBI36
NG_011402.2:g.1102783_1102784insACCA , LRG_482:g.1102783_1102784insACCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.265_266insACCA MANE Select	ENSP00000501943.1:p.Leu89HisfsTer?
ENST00000300305.7:c.265_266insACCA	ENSP00000300305.3:p.Leu89HisfsTer?
ENST00000344691.8:c.184_185insACCA	ENSP00000340690.4:p.Leu62HisfsTer?
ENST00000358356.9:c.184_185insACCA	ENSP00000351123.5:p.Leu62HisfsTer?
ENST00000399237.6:c.229_230insACCA	ENSP00000382182.2:p.Leu77HisfsTer?
ENST00000399240.5:c.184_185insACCA	ENSP00000382184.1:p.Leu62HisfsTer?
ENST00000437180.5:c.265_266insACCA	ENSP00000409227.1:p.Leu89HisfsTer?
ENST00000455571.5:c.226_227insACCA	ENSP00000388189.1:p.Leu76HisfsTer?
ENST00000482318.5:c.59-6216_59-6215insACCA	ENSP00000477067.1:n.59-6216_59-6215insACCA
NM_001001890.2:c.184_185insACCA	NP_001001890.1:p.Leu62HisfsTer?
NM_001122607.1:c.184_185insACCA	NP_001116079.1:p.Leu62HisfsTer?
NM_001754.4:c.265_266insACCA , LRG_482t1:c.265_266insACCA	NP_001745.2:p.Leu89HisfsTer?
XM_005261068.3:c.229_230insACCA	XP_005261125.1:p.Leu77HisfsTer?
XM_005261069.3:c.265_266insACCA	XP_005261126.1:p.Leu89HisfsTer?
XM_011529766.1:c.265_266insACCA	XP_011528068.1:p.Leu89HisfsTer?
XM_011529767.1:c.226_227insACCA	XP_011528069.1:p.Leu76HisfsTer?
XM_011529768.1:c.226_227insACCA	XP_011528070.1:p.Leu76HisfsTer?
XM_011529770.1:c.265_266insACCA	XP_011528072.1:p.Leu89HisfsTer?
XR_937576.1:n.444_445insACCA
XM_005261069.4:c.265_266insACCA	XP_005261126.1:p.Leu89HisfsTer?
XM_011529766.2:c.265_266insACCA	XP_011528068.1:p.Leu89HisfsTer?
XM_011529767.2:c.226_227insACCA	XP_011528069.1:p.Leu76HisfsTer?
XM_011529768.2:c.226_227insACCA	XP_011528070.1:p.Leu76HisfsTer?
XM_011529770.2:c.265_266insACCA	XP_011528072.1:p.Leu89HisfsTer?
XM_017028487.1:c.112_113insACCA	XP_016883976.1:p.Leu38HisfsTer?
XR_937576.2:n.491_492insACCA
NM_001001890.3:c.184_185insACCA	NP_001001890.1:p.Leu62HisfsTer?
NM_001122607.2:c.184_185insACCA	NP_001116079.1:p.Leu62HisfsTer?
NM_001754.5:c.265_266insACCA MANE Select	NP_001745.2:p.Leu89HisfsTer?