Canonical Allele Identifier: CA2695211246

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824801del , CM000671.2:g.127824801del	GRCh38
NC_000009.11:g.130587080del , CM000671.1:g.130587080del	GRCh37
NC_000009.10:g.129626901del	NCBI36
NG_009551.1:g.34968del , LRG_589:g.34968del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.444del	ENSP00000479015.1:p.Cys148TrpfsTer29
ENST00000373203.9:c.990del MANE Select	ENSP00000362299.4:p.Cys330TrpfsTer29
ENST00000344849.4:c.990del	ENSP00000341917.3:p.Cys330TrpfsTer29
ENST00000373203.8:c.990del	ENSP00000362299.4:p.Cys330TrpfsTer29
ENST00000480266.5:c.444del	ENSP00000479015.1:p.Cys148TrpfsTer29
NM_000118.3:c.990del , LRG_589t1:c.990del	NP_000109.1:p.Cys330TrpfsTer29
NM_001114753.2:c.990del , LRG_589t2:c.990del	NP_001108225.1:p.Cys330TrpfsTer29
NM_001278138.1:c.444del	NP_001265067.1:p.Cys148TrpfsTer29
NM_001114753.3:c.990del MANE Select	NP_001108225.1:p.Cys330TrpfsTer29
NM_001278138.2:c.444del	NP_001265067.1:p.Cys148TrpfsTer29