Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34880643_34880644insGCCTG , CM000683.2:g.34880643_34880644insGCCTG	GRCh38
NC_000021.8:g.36252940_36252941insGCCTG , CM000683.1:g.36252940_36252941insGCCTG	GRCh37
NC_000021.7:g.35174810_35174811insGCCTG	NCBI36
NG_011402.2:g.1109069_1109070insAGGCC , LRG_482:g.1109069_1109070insAGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.422_423insAGGCC MANE Select	ENSP00000501943.1:p.Ala142GlyfsTer5
ENST00000300305.7:c.422_423insAGGCC	ENSP00000300305.3:p.Ala142GlyfsTer5
ENST00000344691.8:c.341_342insAGGCC	ENSP00000340690.4:p.Ala115GlyfsTer5
ENST00000358356.9:c.341_342insAGGCC	ENSP00000351123.5:p.Ala115GlyfsTer5
ENST00000399237.6:c.386_387insAGGCC	ENSP00000382182.2:p.Ala130GlyfsTer5
ENST00000399240.5:c.341_342insAGGCC	ENSP00000382184.1:p.Ala115GlyfsTer5
ENST00000437180.5:c.422_423insAGGCC	ENSP00000409227.1:p.Ala142GlyfsTer5
ENST00000455571.5:c.383_384insAGGCC	ENSP00000388189.1:p.Ala129GlyfsTer5
ENST00000482318.5:c.12_13insAGGCC	ENSP00000477067.1:n.12_13insAGGCC
NM_001001890.2:c.341_342insAGGCC	NP_001001890.1:p.Ala115GlyfsTer5
NM_001122607.1:c.341_342insAGGCC	NP_001116079.1:p.Ala115GlyfsTer5
NM_001754.4:c.422_423insAGGCC , LRG_482t1:c.422_423insAGGCC	NP_001745.2:p.Ala142GlyfsTer5
XM_005261068.3:c.386_387insAGGCC	XP_005261125.1:p.Ala130GlyfsTer5
XM_005261069.3:c.422_423insAGGCC	XP_005261126.1:p.Ala142GlyfsTer5
XM_011529766.1:c.422_423insAGGCC	XP_011528068.1:p.Ala142GlyfsTer5
XM_011529767.1:c.383_384insAGGCC	XP_011528069.1:p.Ala129GlyfsTer5
XM_011529768.1:c.383_384insAGGCC	XP_011528070.1:p.Ala129GlyfsTer5
XM_011529770.1:c.422_423insAGGCC	XP_011528072.1:p.Ala142GlyfsTer5
XR_937576.1:n.601_602insAGGCC
XM_005261069.4:c.422_423insAGGCC	XP_005261126.1:p.Ala142GlyfsTer5
XM_011529766.2:c.422_423insAGGCC	XP_011528068.1:p.Ala142GlyfsTer5
XM_011529767.2:c.383_384insAGGCC	XP_011528069.1:p.Ala129GlyfsTer5
XM_011529768.2:c.383_384insAGGCC	XP_011528070.1:p.Ala129GlyfsTer5
XM_011529770.2:c.422_423insAGGCC	XP_011528072.1:p.Ala142GlyfsTer5
XM_017028487.1:c.269_270insAGGCC	XP_016883976.1:p.Ala91GlyfsTer5
XR_937576.2:n.648_649insAGGCC
NM_001001890.3:c.341_342insAGGCC	NP_001001890.1:p.Ala115GlyfsTer5
NM_001122607.2:c.341_342insAGGCC	NP_001116079.1:p.Ala115GlyfsTer5
NM_001754.5:c.422_423insAGGCC MANE Select	NP_001745.2:p.Ala142GlyfsTer5