Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34880643_34880644insGGTCCG , CM000683.2:g.34880643_34880644insGGTCCG	GRCh38
NC_000021.8:g.36252940_36252941insGGTCCG , CM000683.1:g.36252940_36252941insGGTCCG	GRCh37
NC_000021.7:g.35174810_35174811insGGTCCG	NCBI36
NG_011402.2:g.1109071_1109072insACCCGG , LRG_482:g.1109071_1109072insACCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.424_425insACCCGG MANE Select	ENSP00000501943.1:p.Ser141_Ala142insAspPro
ENST00000300305.7:c.424_425insACCCGG	ENSP00000300305.3:p.Ser141_Ala142insAspPro
ENST00000344691.8:c.343_344insACCCGG	ENSP00000340690.4:p.Ser114_Ala115insAspPro
ENST00000358356.9:c.343_344insACCCGG	ENSP00000351123.5:p.Ser114_Ala115insAspPro
ENST00000399237.6:c.388_389insACCCGG	ENSP00000382182.2:p.Ser129_Ala130insAspPro
ENST00000399240.5:c.343_344insACCCGG	ENSP00000382184.1:p.Ser114_Ala115insAspPro
ENST00000437180.5:c.424_425insACCCGG	ENSP00000409227.1:p.Ser141_Ala142insAspPro
ENST00000455571.5:c.385_386insACCCGG	ENSP00000388189.1:p.Ser128_Ala129insAspPro
ENST00000482318.5:c.14_15insACCCGG	ENSP00000477067.1:n.14_15insACCCGG
NM_001001890.2:c.343_344insACCCGG	NP_001001890.1:p.Ser114_Ala115insAspPro
NM_001122607.1:c.343_344insACCCGG	NP_001116079.1:p.Ser114_Ala115insAspPro
NM_001754.4:c.424_425insACCCGG , LRG_482t1:c.424_425insACCCGG	NP_001745.2:p.Ser141_Ala142insAspPro
XM_005261068.3:c.388_389insACCCGG	XP_005261125.1:p.Ser129_Ala130insAspPro
XM_005261069.3:c.424_425insACCCGG	XP_005261126.1:p.Ser141_Ala142insAspPro
XM_011529766.1:c.424_425insACCCGG	XP_011528068.1:p.Ser141_Ala142insAspPro
XM_011529767.1:c.385_386insACCCGG	XP_011528069.1:p.Ser128_Ala129insAspPro
XM_011529768.1:c.385_386insACCCGG	XP_011528070.1:p.Ser128_Ala129insAspPro
XM_011529770.1:c.424_425insACCCGG	XP_011528072.1:p.Ser141_Ala142insAspPro
XR_937576.1:n.603_604insACCCGG
XM_005261069.4:c.424_425insACCCGG	XP_005261126.1:p.Ser141_Ala142insAspPro
XM_011529766.2:c.424_425insACCCGG	XP_011528068.1:p.Ser141_Ala142insAspPro
XM_011529767.2:c.385_386insACCCGG	XP_011528069.1:p.Ser128_Ala129insAspPro
XM_011529768.2:c.385_386insACCCGG	XP_011528070.1:p.Ser128_Ala129insAspPro
XM_011529770.2:c.424_425insACCCGG	XP_011528072.1:p.Ser141_Ala142insAspPro
XM_017028487.1:c.271_272insACCCGG	XP_016883976.1:p.Ser90_Ala91insAspPro
XR_937576.2:n.650_651insACCCGG
NM_001001890.3:c.343_344insACCCGG	NP_001001890.1:p.Ser114_Ala115insAspPro
NM_001122607.2:c.343_344insACCCGG	NP_001116079.1:p.Ser114_Ala115insAspPro
NM_001754.5:c.424_425insACCCGG MANE Select	NP_001745.2:p.Ser141_Ala142insAspPro