Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34880644_34880645insAACC , CM000683.2:g.34880644_34880645insAACC	GRCh38
NC_000021.8:g.36252941_36252942insAACC , CM000683.1:g.36252941_36252942insAACC	GRCh37
NC_000021.7:g.35174811_35174812insAACC	NCBI36
NG_011402.2:g.1109067_1109068insGGTT , LRG_482:g.1109067_1109068insGGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.420_421insGGTT MANE Select	ENSP00000501943.1:p.Ser141GlyfsTer4
ENST00000300305.7:c.420_421insGGTT	ENSP00000300305.3:p.Ser141GlyfsTer4
ENST00000344691.8:c.339_340insGGTT	ENSP00000340690.4:p.Ser114GlyfsTer4
ENST00000358356.9:c.339_340insGGTT	ENSP00000351123.5:p.Ser114GlyfsTer4
ENST00000399237.6:c.384_385insGGTT	ENSP00000382182.2:p.Ser129GlyfsTer4
ENST00000399240.5:c.339_340insGGTT	ENSP00000382184.1:p.Ser114GlyfsTer4
ENST00000437180.5:c.420_421insGGTT	ENSP00000409227.1:p.Ser141GlyfsTer4
ENST00000455571.5:c.381_382insGGTT	ENSP00000388189.1:p.Ser128GlyfsTer4
ENST00000482318.5:c.10_11insGGTT	ENSP00000477067.1:n.10_11insGGTT
NM_001001890.2:c.339_340insGGTT	NP_001001890.1:p.Ser114GlyfsTer4
NM_001122607.1:c.339_340insGGTT	NP_001116079.1:p.Ser114GlyfsTer4
NM_001754.4:c.420_421insGGTT , LRG_482t1:c.420_421insGGTT	NP_001745.2:p.Ser141GlyfsTer4
XM_005261068.3:c.384_385insGGTT	XP_005261125.1:p.Ser129GlyfsTer4
XM_005261069.3:c.420_421insGGTT	XP_005261126.1:p.Ser141GlyfsTer4
XM_011529766.1:c.420_421insGGTT	XP_011528068.1:p.Ser141GlyfsTer4
XM_011529767.1:c.381_382insGGTT	XP_011528069.1:p.Ser128GlyfsTer4
XM_011529768.1:c.381_382insGGTT	XP_011528070.1:p.Ser128GlyfsTer4
XM_011529770.1:c.420_421insGGTT	XP_011528072.1:p.Ser141GlyfsTer4
XR_937576.1:n.599_600insGGTT
XM_005261069.4:c.420_421insGGTT	XP_005261126.1:p.Ser141GlyfsTer4
XM_011529766.2:c.420_421insGGTT	XP_011528068.1:p.Ser141GlyfsTer4
XM_011529767.2:c.381_382insGGTT	XP_011528069.1:p.Ser128GlyfsTer4
XM_011529768.2:c.381_382insGGTT	XP_011528070.1:p.Ser128GlyfsTer4
XM_011529770.2:c.420_421insGGTT	XP_011528072.1:p.Ser141GlyfsTer4
XM_017028487.1:c.267_268insGGTT	XP_016883976.1:p.Ser90GlyfsTer4
XR_937576.2:n.646_647insGGTT
NM_001001890.3:c.339_340insGGTT	NP_001001890.1:p.Ser114GlyfsTer4
NM_001122607.2:c.339_340insGGTT	NP_001116079.1:p.Ser114GlyfsTer4
NM_001754.5:c.420_421insGGTT MANE Select	NP_001745.2:p.Ser141GlyfsTer4