Canonical Allele Identifier: CA1879989872

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819975_127819977delinsCCT , CM000671.2:g.127819975_127819977delinsCCT	GRCh38
NC_000009.11:g.130582254_130582256delinsCCT , CM000671.1:g.130582254_130582256delinsCCT	GRCh37
NC_000009.10:g.129622075_129622077delinsCCT	NCBI36
NG_009551.1:g.39792_39794delinsAGG , LRG_589:g.39792_39794delinsAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.649_651delinsAGG	ENSP00000479015.1:p.Arg217=
ENST00000373203.9:c.1195_1197delinsAGG MANE Select	ENSP00000362299.4:p.Arg399=
ENST00000344849.4:c.1195_1197delinsAGG	ENSP00000341917.3:p.Arg399=
ENST00000373203.8:c.1195_1197delinsAGG	ENSP00000362299.4:p.Arg399=
ENST00000480266.5:c.649_651delinsAGG	ENSP00000479015.1:p.Arg217=
ENST00000486329.1:n.163_165delinsAGG
NM_000118.3:c.1195_1197delinsAGG , LRG_589t1:c.1195_1197delinsAGG	NP_000109.1:p.Arg399=
NM_001114753.2:c.1195_1197delinsAGG , LRG_589t2:c.1195_1197delinsAGG	NP_001108225.1:p.Arg399=
NM_001278138.1:c.649_651delinsAGG	NP_001265067.1:p.Arg217=
NR_136302.1:n.1569-1220_1569-1218delinsCCT
NM_001114753.3:c.1195_1197delinsAGG MANE Select	NP_001108225.1:p.Arg399=
NM_001278138.2:c.649_651delinsAGG	NP_001265067.1:p.Arg217=