Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092471_43092475delinsTGGAA , CM000679.2:g.43092471_43092475delinsTGGAA	GRCh38
NC_000017.10:g.41244488_41244492delinsTGGAA , CM000679.1:g.41244488_41244492delinsTGGAA	GRCh37
NC_000017.9:g.38498014_38498018delinsTGGAA	NCBI36
NG_005905.2:g.125509_125513delinsTTCCA , LRG_292:g.125509_125513delinsTTCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3120_3124delinsTTCCA
ENST00000461574.2:c.3056_3060delinsTTCCA	ENSP00000417241.2:p.Ile1019=
ENST00000470026.6:c.3056_3060delinsTTCCA	ENSP00000419274.2:p.Ile1019=
ENST00000473961.6:c.2930_2934delinsTTCCA	ENSP00000420201.2:p.Ile977=
ENST00000476777.6:c.3053_3057delinsTTCCA	ENSP00000417554.2:p.Ile1018=
ENST00000477152.6:c.2978_2982delinsTTCCA	ENSP00000419988.2:p.Ile993=
ENST00000478531.6:c.785-1443_785-1439delinsTTCCA	ENSP00000420412.2:n.785-1443_785-1439delinsTTCCA
ENST00000489037.2:c.2978_2982delinsTTCCA	ENSP00000420781.2:p.Ile993=
ENST00000493919.6:c.647-1443_647-1439delinsTTCCA	ENSP00000418819.2:n.647-1443_647-1439delinsTTCCA
ENST00000494123.6:c.3056_3060delinsTTCCA	ENSP00000419103.2:p.Ile1019=
ENST00000497488.2:c.2168_2172delinsTTCCA	ENSP00000418986.2:p.Ile723=
ENST00000618469.2:c.3056_3060delinsTTCCA	ENSP00000478114.2:p.Ile1019=
ENST00000634433.2:c.2933_2937delinsTTCCA	ENSP00000489431.2:p.Ile978=
ENST00000644379.2:c.3056_3060delinsTTCCA	ENSP00000496570.2:p.Ile1019=
ENST00000644555.2:c.647-1443_647-1439delinsTTCCA	ENSP00000494614.2:n.647-1443_647-1439delinsTTCCA
ENST00000652672.2:c.2915_2919delinsTTCCA	ENSP00000498906.2:p.Ile972=
ENST00000484087.6:c.665-1443_665-1439delinsTTCCA	ENSP00000419481.2:n.665-1443_665-1439delinsTTCCA
ENST00000700182.1:c.707-1443_707-1439delinsTTCCA	ENSP00000514849.1:n.707-1443_707-1439delinsTTCCA
ENST00000357654.9:c.3056_3060delinsTTCCA MANE Select	ENSP00000350283.3:p.Ile1019=
ENST00000471181.7:c.3056_3060delinsTTCCA	ENSP00000418960.2:p.Ile1019=
ENST00000352993.7:c.671-1443_671-1439delinsTTCCA	ENSP00000312236.5:n.671-1443_671-1439delinsTTCCA
ENST00000354071.7:c.3056_3060delinsTTCCA	ENSP00000326002.7:p.Ile1019=
ENST00000357654.7:c.3056_3060delinsTTCCA	ENSP00000350283.3:p.Ile1019=
ENST00000461221.5:c.2839_2843delinsTTCCA	ENSP00000418548.1:n.2839_2843delinsTTCCA
ENST00000468300.5:c.788-1443_788-1439delinsTTCCA	ENSP00000417148.1:n.788-1443_788-1439delinsTTCCA
ENST00000471181.6:c.3056_3060delinsTTCCA	ENSP00000418960.2:p.Ile1019=
ENST00000478531.5:c.785-1443_785-1439delinsTTCCA	ENSP00000420412.1:n.785-1443_785-1439delinsTTCCA
ENST00000484087.5:c.410-1443_410-1439delinsTTCCA	ENSP00000419481.1:n.410-1443_410-1439delinsTTCCA
ENST00000487825.5:c.413-1443_413-1439delinsTTCCA	ENSP00000418212.1:n.413-1443_413-1439delinsTTCCA
ENST00000491747.6:c.788-1443_788-1439delinsTTCCA	ENSP00000420705.2:n.788-1443_788-1439delinsTTCCA
ENST00000493795.5:c.2915_2919delinsTTCCA	ENSP00000418775.1:p.Ile972=
ENST00000493919.5:c.647-1443_647-1439delinsTTCCA	ENSP00000418819.1:n.647-1443_647-1439delinsTTCCA
ENST00000586385.5:c.5-28524_5-28520delinsTTCCA	ENSP00000465818.1:n.5-28524_5-28520delinsTTCCA
ENST00000591534.5:c.-43-17954_-43-17950delinsTTCCA	ENSP00000467329.1:n.-43-17954_-43-17950delinsTTCCA
ENST00000591849.5:c.-99+32796_-99+32800delinsTTCCA	ENSP00000465347.1:n.-99+32796_-99+32800delinsTTCCA
NM_007294.3:c.3056_3060delinsTTCCA , LRG_292t1:c.3056_3060delinsTTCCA	NP_009225.1:p.Ile1019=
NM_007297.3:c.2915_2919delinsTTCCA	NP_009228.2:p.Ile972=
NM_007298.3:c.788-1443_788-1439delinsTTCCA	NP_009229.2:n.788-1443_788-1439delinsTTCCA
NM_007299.3:c.788-1443_788-1439delinsTTCCA	NP_009230.2:n.788-1443_788-1439delinsTTCCA
NM_007300.3:c.3056_3060delinsTTCCA	NP_009231.2:p.Ile1019=
NR_027676.1:n.3192_3196delinsTTCCA
NM_007294.4:c.3056_3060delinsTTCCA MANE Select	NP_009225.1:p.Ile1019=
NM_007297.4:c.2915_2919delinsTTCCA	NP_009228.2:p.Ile972=
NM_007299.4:c.788-1443_788-1439delinsTTCCA	NP_009230.2:n.788-1443_788-1439delinsTTCCA
NM_007300.4:c.3056_3060delinsTTCCA	NP_009231.2:p.Ile1019=
NR_027676.2:n.3233_3237delinsTTCCA