Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092431_43093435del , CM000679.2:g.43092431_43093435del	GRCh38
NC_000017.10:g.41244448_41245452del , CM000679.1:g.41244448_41245452del	GRCh37
NC_000017.9:g.38497974_38498978del	NCBI36
NG_005905.2:g.124550_125554del , LRG_292:g.124550_125554del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2161_3165del
ENST00000461574.2:c.2097_3101del	ENSP00000417241.2:p.Glu699_Asn1034delinsAsp
ENST00000470026.6:c.2097_3101del	ENSP00000419274.2:p.Glu699_Asn1034delinsAsp
ENST00000473961.6:c.1971_2975del	ENSP00000420201.2:p.Glu657_Asn992delinsAsp
ENST00000476777.6:c.2094_3098del	ENSP00000417554.2:p.Glu698_Asn1033delinsAsp
ENST00000477152.6:c.2019_3023del	ENSP00000419988.2:p.Glu673_Asn1008delinsAsp
ENST00000478531.6:c.784+1310_785-1398del	ENSP00000420412.2:n.784+1310_785-1398del
ENST00000489037.2:c.2019_3023del	ENSP00000420781.2:p.Glu673_Asn1008delinsAsp
ENST00000493919.6:c.646+1310_647-1398del	ENSP00000418819.2:n.646+1310_647-1398del
ENST00000494123.6:c.2097_3101del	ENSP00000419103.2:p.Glu699_Asn1034delinsAsp
ENST00000497488.2:c.1209_2213del	ENSP00000418986.2:p.Glu403_Asn738delinsAsp
ENST00000618469.2:c.2097_3101del	ENSP00000478114.2:p.Glu699_Asn1034delinsAsp
ENST00000634433.2:c.1974_2978del	ENSP00000489431.2:p.Glu658_Asn993delinsAsp
ENST00000644379.2:c.2097_3101del	ENSP00000496570.2:p.Glu699_Asn1034delinsAsp
ENST00000644555.2:c.646+1310_647-1398del	ENSP00000494614.2:n.646+1310_647-1398del
ENST00000652672.2:c.1956_2960del	ENSP00000498906.2:p.Glu652_Asn987delinsAsp
ENST00000484087.6:c.664+1310_665-1398del	ENSP00000419481.2:n.664+1310_665-1398del
ENST00000700182.1:c.706+1310_707-1398del	ENSP00000514849.1:n.706+1310_707-1398del
ENST00000357654.9:c.2097_3101del MANE Select	ENSP00000350283.3:p.Glu699_Asn1034delinsAsp
ENST00000471181.7:c.2097_3101del	ENSP00000418960.2:p.Glu699_Asn1034delinsAsp
ENST00000352993.7:c.671-2402_671-1398del	ENSP00000312236.5:n.671-2402_671-1398del
ENST00000354071.7:c.2097_3101del	ENSP00000326002.7:p.Glu699_Asn1034delinsAsp
ENST00000357654.7:c.2097_3101del	ENSP00000350283.3:p.Glu699_Asn1034delinsAsp
ENST00000461221.5:c.1880_2884del	ENSP00000418548.1:n.1880_2884del
ENST00000468300.5:c.787+1310_788-1398del	ENSP00000417148.1:n.787+1310_788-1398del
ENST00000471181.6:c.2097_3101del	ENSP00000418960.2:p.Glu699_Asn1034delinsAsp
ENST00000478531.5:c.784+1310_785-1398del	ENSP00000420412.1:n.784+1310_785-1398del
ENST00000484087.5:c.409+1310_410-1398del	ENSP00000419481.1:n.409+1310_410-1398del
ENST00000487825.5:c.412+1310_413-1398del	ENSP00000418212.1:n.412+1310_413-1398del
ENST00000491747.6:c.787+1310_788-1398del	ENSP00000420705.2:n.787+1310_788-1398del
ENST00000493795.5:c.1956_2960del	ENSP00000418775.1:p.Glu652_Asn987delinsAsp
ENST00000493919.5:c.646+1310_647-1398del	ENSP00000418819.1:n.646+1310_647-1398del
ENST00000586385.5:c.5-29483_5-28479del	ENSP00000465818.1:n.5-29483_5-28479del
ENST00000591534.5:c.-43-18913_-43-17909del	ENSP00000467329.1:n.-43-18913_-43-17909del
ENST00000591849.5:c.-99+31837_-99+32841del	ENSP00000465347.1:n.-99+31837_-99+32841del
NM_007294.3:c.2097_3101del , LRG_292t1:c.2097_3101del	NP_009225.1:p.Glu699_Asn1034delinsAsp
NM_007297.3:c.1956_2960del	NP_009228.2:p.Glu652_Asn987delinsAsp
NM_007298.3:c.787+1310_788-1398del	NP_009229.2:n.787+1310_788-1398del
NM_007299.3:c.787+1310_788-1398del	NP_009230.2:n.787+1310_788-1398del
NM_007300.3:c.2097_3101del	NP_009231.2:p.Glu699_Asn1034delinsAsp
NR_027676.1:n.2233_3237del
NM_007294.4:c.2097_3101del MANE Select	NP_009225.1:p.Glu699_Asn1034delinsAsp
NM_007297.4:c.1956_2960del	NP_009228.2:p.Glu652_Asn987delinsAsp
NM_007299.4:c.787+1310_788-1398del	NP_009230.2:n.787+1310_788-1398del
NM_007300.4:c.2097_3101del	NP_009231.2:p.Glu699_Asn1034delinsAsp
NR_027676.2:n.2274_3278del