Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091452_43091453delinsCT , CM000679.2:g.43091452_43091453delinsCT	GRCh38
NC_000017.10:g.41243469_41243470delinsCT , CM000679.1:g.41243469_41243470delinsCT	GRCh37
NC_000017.9:g.38496995_38496996delinsCT	NCBI36
NG_005905.2:g.126531_126532delinsAG , LRG_292:g.126531_126532delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.4142_4143delinsAG
ENST00000461574.2:c.4078_4079delinsAG	ENSP00000417241.2:p.Ser1360=
ENST00000470026.6:c.4078_4079delinsAG	ENSP00000419274.2:p.Ser1360=
ENST00000473961.6:c.3952_3953delinsAG	ENSP00000420201.2:p.Ser1318=
ENST00000476777.6:c.4075_4076delinsAG	ENSP00000417554.2:p.Ser1359=
ENST00000477152.6:c.4000_4001delinsAG	ENSP00000419988.2:p.Ser1334=
ENST00000478531.6:c.785-421_785-420delinsAG	ENSP00000420412.2:n.785-421_785-420delinsAG
ENST00000489037.2:c.4000_4001delinsAG	ENSP00000420781.2:p.Ser1334=
ENST00000493919.6:c.647-421_647-420delinsAG	ENSP00000418819.2:n.647-421_647-420delinsAG
ENST00000494123.6:c.4078_4079delinsAG	ENSP00000419103.2:p.Ser1360=
ENST00000497488.2:c.3190_3191delinsAG	ENSP00000418986.2:p.Ser1064=
ENST00000618469.2:c.4078_4079delinsAG	ENSP00000478114.2:p.Ser1360=
ENST00000634433.2:c.3955_3956delinsAG	ENSP00000489431.2:p.Ser1319=
ENST00000644379.2:c.4078_4079delinsAG	ENSP00000496570.2:p.Ser1360=
ENST00000644555.2:c.647-421_647-420delinsAG	ENSP00000494614.2:n.647-421_647-420delinsAG
ENST00000652672.2:c.3937_3938delinsAG	ENSP00000498906.2:p.Ser1313=
ENST00000484087.6:c.665-421_665-420delinsAG	ENSP00000419481.2:n.665-421_665-420delinsAG
ENST00000700182.1:c.707-421_707-420delinsAG	ENSP00000514849.1:n.707-421_707-420delinsAG
ENST00000357654.9:c.4078_4079delinsAG MANE Select	ENSP00000350283.3:p.Ser1360=
ENST00000471181.7:c.4078_4079delinsAG	ENSP00000418960.2:p.Ser1360=
ENST00000644379.1:c.399_400delinsAG
ENST00000352993.7:c.671-421_671-420delinsAG	ENSP00000312236.5:n.671-421_671-420delinsAG
ENST00000354071.7:c.4078_4079delinsAG	ENSP00000326002.7:p.Ser1360=
ENST00000357654.7:c.4078_4079delinsAG	ENSP00000350283.3:p.Ser1360=
ENST00000461221.5:c.3861_3862delinsAG	ENSP00000418548.1:n.3861_3862delinsAG
ENST00000461574.1:c.372_373delinsAG
ENST00000468300.5:c.788-421_788-420delinsAG	ENSP00000417148.1:n.788-421_788-420delinsAG
ENST00000471181.6:c.4078_4079delinsAG	ENSP00000418960.2:p.Ser1360=
ENST00000478531.5:c.785-421_785-420delinsAG	ENSP00000420412.1:n.785-421_785-420delinsAG
ENST00000484087.5:c.410-421_410-420delinsAG	ENSP00000419481.1:n.410-421_410-420delinsAG
ENST00000487825.5:c.413-421_413-420delinsAG	ENSP00000418212.1:n.413-421_413-420delinsAG
ENST00000491747.6:c.788-421_788-420delinsAG	ENSP00000420705.2:n.788-421_788-420delinsAG
ENST00000493795.5:c.3937_3938delinsAG	ENSP00000418775.1:p.Ser1313=
ENST00000493919.5:c.647-421_647-420delinsAG	ENSP00000418819.1:n.647-421_647-420delinsAG
ENST00000586385.5:c.5-27502_5-27501delinsAG	ENSP00000465818.1:n.5-27502_5-27501delinsAG
ENST00000591534.5:c.-43-16932_-43-16931delinsAG	ENSP00000467329.1:n.-43-16932_-43-16931delinsAG
ENST00000591849.5:c.-99+33818_-99+33819delinsAG	ENSP00000465347.1:n.-99+33818_-99+33819delinsAG
NM_007294.3:c.4078_4079delinsAG , LRG_292t1:c.4078_4079delinsAG	NP_009225.1:p.Ser1360=
NM_007297.3:c.3937_3938delinsAG	NP_009228.2:p.Ser1313=
NM_007298.3:c.788-421_788-420delinsAG	NP_009229.2:n.788-421_788-420delinsAG
NM_007299.3:c.788-421_788-420delinsAG	NP_009230.2:n.788-421_788-420delinsAG
NM_007300.3:c.4078_4079delinsAG	NP_009231.2:p.Ser1360=
NR_027676.1:n.4214_4215delinsAG
NM_007294.4:c.4078_4079delinsAG MANE Select	NP_009225.1:p.Ser1360=
NM_007297.4:c.3937_3938delinsAG	NP_009228.2:p.Ser1313=
NM_007299.4:c.788-421_788-420delinsAG	NP_009230.2:n.788-421_788-420delinsAG
NM_007300.4:c.4078_4079delinsAG	NP_009231.2:p.Ser1360=
NR_027676.2:n.4255_4256delinsAG