Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045351_43045352delinsAC , CM000679.2:g.43045351_43045352delinsAC	GRCh38
NC_000017.10:g.41197368_41197369delinsAC , CM000679.1:g.41197368_41197369delinsAC	GRCh37
NC_000017.9:g.38450894_38450895delinsAC	NCBI36
NG_005905.2:g.172632_172633delinsGT , LRG_292:g.172632_172633delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.326_327delinsGT	ENSP00000417241.2:n.326_327delinsGT
ENST00000470026.6:c.326_327delinsGT	ENSP00000419274.2:n.326_327delinsGT
ENST00000473961.6:c.326_327delinsGT	ENSP00000420201.2:n.326_327delinsGT
ENST00000476777.6:c.326_327delinsGT	ENSP00000417554.2:n.326_327delinsGT
ENST00000477152.6:c.326_327delinsGT	ENSP00000419988.2:n.326_327delinsGT
ENST00000478531.6:c.326_327delinsGT	ENSP00000420412.2:n.326_327delinsGT
ENST00000489037.2:c.326_327delinsGT	ENSP00000420781.2:n.326_327delinsGT
ENST00000493919.6:c.326_327delinsGT	ENSP00000418819.2:n.326_327delinsGT
ENST00000494123.6:c.326_327delinsGT	ENSP00000419103.2:n.326_327delinsGT
ENST00000497488.2:c.326_327delinsGT	ENSP00000418986.2:n.326_327delinsGT
ENST00000618469.2:c.326_327delinsGT	ENSP00000478114.2:n.326_327delinsGT
ENST00000634433.2:c.326_327delinsGT	ENSP00000489431.2:n.326_327delinsGT
ENST00000644379.2:c.326_327delinsGT	ENSP00000496570.2:n.326_327delinsGT
ENST00000644555.2:c.326_327delinsGT	ENSP00000494614.2:n.326_327delinsGT
ENST00000652672.2:c.326_327delinsGT	ENSP00000498906.2:n.326_327delinsGT
ENST00000700081.1:n.1801_1802delinsGT
ENST00000700082.1:n.1282_1283delinsGT
ENST00000357654.9:c.326_327delinsGT MANE Select	ENSP00000350283.3:n.326_327delinsGT
ENST00000471181.7:c.326_327delinsGT	ENSP00000418960.2:n.326_327delinsGT
ENST00000644379.1:c.2305_2306delinsGT
ENST00000352993.7:c.326_327delinsGT	ENSP00000312236.5:n.326_327delinsGT
ENST00000357654.7:c.326_327delinsGT	ENSP00000350283.3:n.326_327delinsGT
ENST00000468300.5:c.432_433delinsGT	ENSP00000417148.1:n.432_433delinsGT
NM_007294.3:c.326_327delinsGT , LRG_292t1:c.326_327delinsGT	NP_009225.1:n.326_327delinsGT
NM_007297.3:c.326_327delinsGT	NP_009228.2:n.326_327delinsGT
NM_007298.3:c.326_327delinsGT	NP_009229.2:n.326_327delinsGT
NM_007299.3:c.432_433delinsGT	NP_009230.2:n.432_433delinsGT
NM_007300.3:c.326_327delinsGT	NP_009231.2:n.326_327delinsGT
NR_027676.1:n.6054_6055delinsGT
NM_007294.4:c.326_327delinsGT MANE Select	NP_009225.1:n.326_327delinsGT
NM_007297.4:c.326_327delinsGT	NP_009228.2:n.326_327delinsGT
NM_007299.4:c.432_433delinsGT	NP_009230.2:n.432_433delinsGT
NM_007300.4:c.326_327delinsGT	NP_009231.2:n.326_327delinsGT
NR_027676.2:n.6095_6096delinsGT

HGVS	Amino-acid Change
ENST00000461574.2:c.326_327delinsGT	ENSP00000417241.2:n.326_327delinsGT
ENST00000470026.6:c.326_327delinsGT	ENSP00000419274.2:n.326_327delinsGT
ENST00000473961.6:c.326_327delinsGT	ENSP00000420201.2:n.326_327delinsGT
ENST00000476777.6:c.326_327delinsGT	ENSP00000417554.2:n.326_327delinsGT
ENST00000477152.6:c.326_327delinsGT	ENSP00000419988.2:n.326_327delinsGT
ENST00000478531.6:c.326_327delinsGT	ENSP00000420412.2:n.326_327delinsGT
ENST00000489037.2:c.326_327delinsGT	ENSP00000420781.2:n.326_327delinsGT
ENST00000493919.6:c.326_327delinsGT	ENSP00000418819.2:n.326_327delinsGT
ENST00000494123.6:c.326_327delinsGT	ENSP00000419103.2:n.326_327delinsGT
ENST00000497488.2:c.326_327delinsGT	ENSP00000418986.2:n.326_327delinsGT
ENST00000618469.2:c.326_327delinsGT	ENSP00000478114.2:n.326_327delinsGT
ENST00000634433.2:c.326_327delinsGT	ENSP00000489431.2:n.326_327delinsGT
ENST00000644379.2:c.326_327delinsGT	ENSP00000496570.2:n.326_327delinsGT
ENST00000644555.2:c.326_327delinsGT	ENSP00000494614.2:n.326_327delinsGT
ENST00000652672.2:c.326_327delinsGT	ENSP00000498906.2:n.326_327delinsGT
ENST00000700081.1:n.1801_1802delinsGT
ENST00000700082.1:n.1282_1283delinsGT
ENST00000357654.9:c.326_327delinsGT MANE Select	ENSP00000350283.3:n.326_327delinsGT
ENST00000471181.7:c.326_327delinsGT	ENSP00000418960.2:n.326_327delinsGT
ENST00000644379.1:c.2305_2306delinsGT
ENST00000352993.7:c.326_327delinsGT	ENSP00000312236.5:n.326_327delinsGT
ENST00000357654.7:c.326_327delinsGT	ENSP00000350283.3:n.326_327delinsGT
ENST00000468300.5:c.432_433delinsGT	ENSP00000417148.1:n.432_433delinsGT
NM_007294.3:c.326_327delinsGT , LRG_292t1:c.326_327delinsGT	NP_009225.1:n.326_327delinsGT
NM_007297.3:c.326_327delinsGT	NP_009228.2:n.326_327delinsGT
NM_007298.3:c.326_327delinsGT	NP_009229.2:n.326_327delinsGT
NM_007299.3:c.432_433delinsGT	NP_009230.2:n.432_433delinsGT
NM_007300.3:c.326_327delinsGT	NP_009231.2:n.326_327delinsGT
NR_027676.1:n.6054_6055delinsGT
NM_007294.4:c.326_327delinsGT MANE Select	NP_009225.1:n.326_327delinsGT
NM_007297.4:c.326_327delinsGT	NP_009228.2:n.326_327delinsGT
NM_007299.4:c.432_433delinsGT	NP_009230.2:n.432_433delinsGT
NM_007300.4:c.326_327delinsGT	NP_009231.2:n.326_327delinsGT
NR_027676.2:n.6095_6096delinsGT