Canonical Allele Identifier: CA2580079676

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818761_127818764del , CM000671.2:g.127818761_127818764del	GRCh38
NC_000009.11:g.130581040_130581043del , CM000671.1:g.130581040_130581043del	GRCh37
NC_000009.10:g.129620861_129620864del	NCBI36
NG_009551.1:g.41006_41009del , LRG_589:g.41006_41009del

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.1381_1384del MANE Select	NP_001108225.1:p.Leu461ArgfsTer29
ENST00000373203.9:c.1381_1384del MANE Select	ENSP00000362299.4:p.Leu461ArgfsTer29
NM_000118.3:c.1381_1384del , LRG_589t1:c.1381_1384del	NP_000109.1:p.Leu461ArgfsTer29
NM_001114753.2:c.1381_1384del , LRG_589t2:c.1381_1384del	NP_001108225.1:p.Leu461ArgfsTer29
NM_001278138.1:c.835_838del	NP_001265067.1:p.Leu279ArgfsTer29
NM_001278138.2:c.835_838del	NP_001265067.1:p.Leu279ArgfsTer29
NR_136302.1:n.1568+50_1568+53del
ENST00000344849.4:c.1381_1384del	ENSP00000341917.3:p.Leu461ArgfsTer29
ENST00000373203.8:c.1381_1384del	ENSP00000362299.4:p.Leu461ArgfsTer29
ENST00000480266.5:c.835_838del	ENSP00000479015.1:p.Leu279ArgfsTer29
ENST00000480266.6:c.835_838del	ENSP00000479015.1:p.Leu279ArgfsTer29