Canonical Allele Identifier: CA1139533027

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824858del , CM000671.2:g.127824858del	GRCh38
NC_000009.11:g.130587137del , CM000671.1:g.130587137del	GRCh37
NC_000009.10:g.129626958del	NCBI36
NG_009551.1:g.34912del , LRG_589:g.34912del

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.934del MANE Select	NP_001108225.1:p.Ala312HisfsTer?
ENST00000373203.9:c.934del MANE Select	ENSP00000362299.4:p.Ala312HisfsTer?
NM_000118.3:c.934del , LRG_589t1:c.934del	NP_000109.1:p.Ala312HisfsTer?
NM_001114753.2:c.934del , LRG_589t2:c.934del	NP_001108225.1:p.Ala312HisfsTer?
NM_001278138.1:c.388del	NP_001265067.1:p.Ala130HisfsTer?
NM_001278138.2:c.388del	NP_001265067.1:p.Ala130HisfsTer?
ENST00000344849.4:c.934del	ENSP00000341917.3:p.Ala312HisfsTer?
ENST00000373203.8:c.934del	ENSP00000362299.4:p.Ala312HisfsTer?
ENST00000480266.5:c.388del	ENSP00000479015.1:p.Ala130HisfsTer?
ENST00000480266.6:c.388del	ENSP00000479015.1:p.Ala130HisfsTer?