Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34880700_34880701insGGGAAGGGATCCCC , CM000683.2:g.34880700_34880701insGGGAAGGGATCCCC	GRCh38
NC_000021.8:g.36252997_36252998insGGGAAGGGATCCCC , CM000683.1:g.36252997_36252998insGGGAAGGGATCCCC	GRCh37
NC_000021.7:g.35174867_35174868insGGGAAGGGATCCCC	NCBI36
NG_011402.2:g.1109014_1109015insGATCCCTTCCCGGG , LRG_482:g.1109014_1109015insGATCCCTTCCCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.367_368insGATCCCTTCCCGGG MANE Select	ENSP00000501943.1:p.Asp123GlyfsTer15
ENST00000300305.7:c.367_368insGATCCCTTCCCGGG	ENSP00000300305.3:p.Asp123GlyfsTer15
ENST00000344691.8:c.286_287insGATCCCTTCCCGGG	ENSP00000340690.4:p.Asp96GlyfsTer15
ENST00000358356.9:c.286_287insGATCCCTTCCCGGG	ENSP00000351123.5:p.Asp96GlyfsTer15
ENST00000399237.6:c.331_332insGATCCCTTCCCGGG	ENSP00000382182.2:p.Asp111GlyfsTer15
ENST00000399240.5:c.286_287insGATCCCTTCCCGGG	ENSP00000382184.1:p.Asp96GlyfsTer15
ENST00000437180.5:c.367_368insGATCCCTTCCCGGG	ENSP00000409227.1:p.Asp123GlyfsTer15
ENST00000455571.5:c.328_329insGATCCCTTCCCGGG	ENSP00000388189.1:p.Asp110GlyfsTer15
ENST00000482318.5:c.74_75insGATCCCTTCCCGGG	ENSP00000477067.1:p.Cys26IlefsTer?
NM_001001890.2:c.286_287insGATCCCTTCCCGGG	NP_001001890.1:p.Asp96GlyfsTer15
NM_001122607.1:c.286_287insGATCCCTTCCCGGG	NP_001116079.1:p.Asp96GlyfsTer15
NM_001754.4:c.367_368insGATCCCTTCCCGGG , LRG_482t1:c.367_368insGATCCCTTCCCGGG	NP_001745.2:p.Asp123GlyfsTer15
XM_005261068.3:c.331_332insGATCCCTTCCCGGG	XP_005261125.1:p.Asp111GlyfsTer15
XM_005261069.3:c.367_368insGATCCCTTCCCGGG	XP_005261126.1:p.Asp123GlyfsTer15
XM_011529766.1:c.367_368insGATCCCTTCCCGGG	XP_011528068.1:p.Asp123GlyfsTer15
XM_011529767.1:c.328_329insGATCCCTTCCCGGG	XP_011528069.1:p.Asp110GlyfsTer15
XM_011529768.1:c.328_329insGATCCCTTCCCGGG	XP_011528070.1:p.Asp110GlyfsTer15
XM_011529770.1:c.367_368insGATCCCTTCCCGGG	XP_011528072.1:p.Asp123GlyfsTer15
XR_937576.1:n.546_547insGATCCCTTCCCGGG
XM_005261069.4:c.367_368insGATCCCTTCCCGGG	XP_005261126.1:p.Asp123GlyfsTer15
XM_011529766.2:c.367_368insGATCCCTTCCCGGG	XP_011528068.1:p.Asp123GlyfsTer15
XM_011529767.2:c.328_329insGATCCCTTCCCGGG	XP_011528069.1:p.Asp110GlyfsTer15
XM_011529768.2:c.328_329insGATCCCTTCCCGGG	XP_011528070.1:p.Asp110GlyfsTer15
XM_011529770.2:c.367_368insGATCCCTTCCCGGG	XP_011528072.1:p.Asp123GlyfsTer15
XM_017028487.1:c.214_215insGATCCCTTCCCGGG	XP_016883976.1:p.Asp72GlyfsTer15
XR_937576.2:n.593_594insGATCCCTTCCCGGG
NM_001001890.3:c.286_287insGATCCCTTCCCGGG	NP_001001890.1:p.Asp96GlyfsTer15
NM_001122607.2:c.286_287insGATCCCTTCCCGGG	NP_001116079.1:p.Asp96GlyfsTer15
NM_001754.5:c.367_368insGATCCCTTCCCGGG MANE Select	NP_001745.2:p.Asp123GlyfsTer15