Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34886915_34886916insACCCGGGGCTG , CM000683.2:g.34886915_34886916insACCCGGGGCTG	GRCh38
NC_000021.8:g.36259212_36259213insACCCGGGGCTG , CM000683.1:g.36259212_36259213insACCCGGGGCTG	GRCh37
NC_000021.7:g.35181082_35181083insACCCGGGGCTG	NCBI36
NG_011402.2:g.1102803_1102804insGGGTCAGCCCC , LRG_482:g.1102803_1102804insGGGTCAGCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.285_286insGGGTCAGCCCC MANE Select	ENSP00000501943.1:p.Asn96GlyfsTer30
ENST00000300305.7:c.285_286insGGGTCAGCCCC	ENSP00000300305.3:p.Asn96GlyfsTer30
ENST00000344691.8:c.204_205insGGGTCAGCCCC	ENSP00000340690.4:p.Asn69GlyfsTer30
ENST00000358356.9:c.204_205insGGGTCAGCCCC	ENSP00000351123.5:p.Asn69GlyfsTer30
ENST00000399237.6:c.249_250insGGGTCAGCCCC	ENSP00000382182.2:p.Asn84GlyfsTer30
ENST00000399240.5:c.204_205insGGGTCAGCCCC	ENSP00000382184.1:p.Asn69GlyfsTer30
ENST00000437180.5:c.285_286insGGGTCAGCCCC	ENSP00000409227.1:p.Asn96GlyfsTer30
ENST00000455571.5:c.246_247insGGGTCAGCCCC	ENSP00000388189.1:p.Asn83GlyfsTer30
ENST00000482318.5:c.59-6196_59-6195insGGGTCAGCCCC	ENSP00000477067.1:n.59-6196_59-6195insGGGTCAGCCCC
NM_001001890.2:c.204_205insGGGTCAGCCCC	NP_001001890.1:p.Asn69GlyfsTer30
NM_001122607.1:c.204_205insGGGTCAGCCCC	NP_001116079.1:p.Asn69GlyfsTer30
NM_001754.4:c.285_286insGGGTCAGCCCC , LRG_482t1:c.285_286insGGGTCAGCCCC	NP_001745.2:p.Asn96GlyfsTer30
XM_005261068.3:c.249_250insGGGTCAGCCCC	XP_005261125.1:p.Asn84GlyfsTer30
XM_005261069.3:c.285_286insGGGTCAGCCCC	XP_005261126.1:p.Asn96GlyfsTer30
XM_011529766.1:c.285_286insGGGTCAGCCCC	XP_011528068.1:p.Asn96GlyfsTer30
XM_011529767.1:c.246_247insGGGTCAGCCCC	XP_011528069.1:p.Asn83GlyfsTer30
XM_011529768.1:c.246_247insGGGTCAGCCCC	XP_011528070.1:p.Asn83GlyfsTer30
XM_011529770.1:c.285_286insGGGTCAGCCCC	XP_011528072.1:p.Asn96GlyfsTer30
XR_937576.1:n.464_465insGGGTCAGCCCC
XM_005261069.4:c.285_286insGGGTCAGCCCC	XP_005261126.1:p.Asn96GlyfsTer30
XM_011529766.2:c.285_286insGGGTCAGCCCC	XP_011528068.1:p.Asn96GlyfsTer30
XM_011529767.2:c.246_247insGGGTCAGCCCC	XP_011528069.1:p.Asn83GlyfsTer30
XM_011529768.2:c.246_247insGGGTCAGCCCC	XP_011528070.1:p.Asn83GlyfsTer30
XM_011529770.2:c.285_286insGGGTCAGCCCC	XP_011528072.1:p.Asn96GlyfsTer30
XM_017028487.1:c.132_133insGGGTCAGCCCC	XP_016883976.1:p.Asn45GlyfsTer30
XR_937576.2:n.511_512insGGGTCAGCCCC
NM_001001890.3:c.204_205insGGGTCAGCCCC	NP_001001890.1:p.Asn69GlyfsTer30
NM_001122607.2:c.204_205insGGGTCAGCCCC	NP_001116079.1:p.Asn69GlyfsTer30
NM_001754.5:c.285_286insGGGTCAGCCCC MANE Select	NP_001745.2:p.Asn96GlyfsTer30