Canonical Allele Identifier: CA915947182

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825719del , CM000671.2:g.127825719del	GRCh38
NC_000009.11:g.130587998del , CM000671.1:g.130587998del	GRCh37
NC_000009.10:g.129627819del	NCBI36
NG_009551.1:g.34052del , LRG_589:g.34052del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.121del	ENSP00000479015.1:p.Val41SerfsTer12
ENST00000373203.9:c.667del MANE Select	ENSP00000362299.4:p.Val223SerfsTer12
ENST00000344849.4:c.667del	ENSP00000341917.3:p.Val223SerfsTer12
ENST00000373203.8:c.667del	ENSP00000362299.4:p.Val223SerfsTer12
ENST00000480266.5:c.121del	ENSP00000479015.1:p.Val41SerfsTer12
NM_000118.3:c.667del , LRG_589t1:c.667del	NP_000109.1:p.Val223SerfsTer12
NM_001114753.2:c.667del , LRG_589t2:c.667del	NP_001108225.1:p.Val223SerfsTer12
NM_001278138.1:c.121del	NP_001265067.1:p.Val41SerfsTer12
XR_001746952.2:n.82+261del
NM_001114753.3:c.667del MANE Select	NP_001108225.1:p.Val223SerfsTer12
NM_001278138.2:c.121del	NP_001265067.1:p.Val41SerfsTer12