Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092477_43092478insCTCAT , CM000679.2:g.43092477_43092478insCTCAT	GRCh38
NC_000017.10:g.41244494_41244495insCTCAT , CM000679.1:g.41244494_41244495insCTCAT	GRCh37
NC_000017.9:g.38498020_38498021insCTCAT	NCBI36
NG_005905.2:g.125506_125507insATGAG , LRG_292:g.125506_125507insATGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3117_3118insATGAG
ENST00000461574.2:c.3053_3054insATGAG	ENSP00000417241.2:p.Asn1018LysfsTer2
ENST00000470026.6:c.3053_3054insATGAG	ENSP00000419274.2:p.Asn1018LysfsTer2
ENST00000473961.6:c.2927_2928insATGAG	ENSP00000420201.2:p.Asn976LysfsTer2
ENST00000476777.6:c.3050_3051insATGAG	ENSP00000417554.2:p.Asn1017LysfsTer2
ENST00000477152.6:c.2975_2976insATGAG	ENSP00000419988.2:p.Asn992LysfsTer2
ENST00000478531.6:c.785-1446_785-1445insATGAG	ENSP00000420412.2:n.785-1446_785-1445insATGAG
ENST00000489037.2:c.2975_2976insATGAG	ENSP00000420781.2:p.Asn992LysfsTer2
ENST00000493919.6:c.647-1446_647-1445insATGAG	ENSP00000418819.2:n.647-1446_647-1445insATGAG
ENST00000494123.6:c.3053_3054insATGAG	ENSP00000419103.2:p.Asn1018LysfsTer2
ENST00000497488.2:c.2165_2166insATGAG	ENSP00000418986.2:p.Asn722LysfsTer2
ENST00000618469.2:c.3053_3054insATGAG	ENSP00000478114.2:p.Asn1018LysfsTer2
ENST00000634433.2:c.2930_2931insATGAG	ENSP00000489431.2:p.Asn977LysfsTer2
ENST00000644379.2:c.3053_3054insATGAG	ENSP00000496570.2:p.Asn1018LysfsTer2
ENST00000644555.2:c.647-1446_647-1445insATGAG	ENSP00000494614.2:n.647-1446_647-1445insATGAG
ENST00000652672.2:c.2912_2913insATGAG	ENSP00000498906.2:p.Asn971LysfsTer2
ENST00000484087.6:c.665-1446_665-1445insATGAG	ENSP00000419481.2:n.665-1446_665-1445insATGAG
ENST00000700182.1:c.707-1446_707-1445insATGAG	ENSP00000514849.1:n.707-1446_707-1445insATGAG
ENST00000357654.9:c.3053_3054insATGAG MANE Select	ENSP00000350283.3:p.Asn1018LysfsTer2
ENST00000471181.7:c.3053_3054insATGAG	ENSP00000418960.2:p.Asn1018LysfsTer2
ENST00000352993.7:c.671-1446_671-1445insATGAG	ENSP00000312236.5:n.671-1446_671-1445insATGAG
ENST00000354071.7:c.3053_3054insATGAG	ENSP00000326002.7:p.Asn1018LysfsTer2
ENST00000357654.7:c.3053_3054insATGAG	ENSP00000350283.3:p.Asn1018LysfsTer2
ENST00000461221.5:c.2836_2837insATGAG	ENSP00000418548.1:n.2836_2837insATGAG
ENST00000468300.5:c.788-1446_788-1445insATGAG	ENSP00000417148.1:n.788-1446_788-1445insATGAG
ENST00000471181.6:c.3053_3054insATGAG	ENSP00000418960.2:p.Asn1018LysfsTer2
ENST00000478531.5:c.785-1446_785-1445insATGAG	ENSP00000420412.1:n.785-1446_785-1445insATGAG
ENST00000484087.5:c.410-1446_410-1445insATGAG	ENSP00000419481.1:n.410-1446_410-1445insATGAG
ENST00000487825.5:c.413-1446_413-1445insATGAG	ENSP00000418212.1:n.413-1446_413-1445insATGAG
ENST00000491747.6:c.788-1446_788-1445insATGAG	ENSP00000420705.2:n.788-1446_788-1445insATGAG
ENST00000493795.5:c.2912_2913insATGAG	ENSP00000418775.1:p.Asn971LysfsTer2
ENST00000493919.5:c.647-1446_647-1445insATGAG	ENSP00000418819.1:n.647-1446_647-1445insATGAG
ENST00000586385.5:c.5-28527_5-28526insATGAG	ENSP00000465818.1:n.5-28527_5-28526insATGAG
ENST00000591534.5:c.-43-17957_-43-17956insATGAG	ENSP00000467329.1:n.-43-17957_-43-17956insATGAG
ENST00000591849.5:c.-99+32793_-99+32794insATGAG	ENSP00000465347.1:n.-99+32793_-99+32794insATGAG
NM_007294.3:c.3053_3054insATGAG , LRG_292t1:c.3053_3054insATGAG	NP_009225.1:p.Asn1018LysfsTer2
NM_007297.3:c.2912_2913insATGAG	NP_009228.2:p.Asn971LysfsTer2
NM_007298.3:c.788-1446_788-1445insATGAG	NP_009229.2:n.788-1446_788-1445insATGAG
NM_007299.3:c.788-1446_788-1445insATGAG	NP_009230.2:n.788-1446_788-1445insATGAG
NM_007300.3:c.3053_3054insATGAG	NP_009231.2:p.Asn1018LysfsTer2
NR_027676.1:n.3189_3190insATGAG
NM_007294.4:c.3053_3054insATGAG MANE Select	NP_009225.1:p.Asn1018LysfsTer2
NM_007297.4:c.2912_2913insATGAG	NP_009228.2:p.Asn971LysfsTer2
NM_007299.4:c.788-1446_788-1445insATGAG	NP_009230.2:n.788-1446_788-1445insATGAG
NM_007300.4:c.3053_3054insATGAG	NP_009231.2:p.Asn1018LysfsTer2
NR_027676.2:n.3230_3231insATGAG