Canonical Allele Identifier: CA2538918841

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825293_127825296del , CM000671.2:g.127825293_127825296del	GRCh38
NC_000009.11:g.130587572_130587575del , CM000671.1:g.130587572_130587575del	GRCh37
NC_000009.10:g.129627393_129627396del	NCBI36
NG_009551.1:g.34473_34476del , LRG_589:g.34473_34476del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.205_208del	ENSP00000479015.1:p.Leu69SerfsTer?
ENST00000373203.9:c.751_754del MANE Select	ENSP00000362299.4:p.Leu251SerfsTer?
ENST00000344849.4:c.751_754del	ENSP00000341917.3:p.Leu251SerfsTer?
ENST00000373203.8:c.751_754del	ENSP00000362299.4:p.Leu251SerfsTer?
ENST00000480266.5:c.205_208del	ENSP00000479015.1:p.Leu69SerfsTer?
NM_000118.3:c.751_754del , LRG_589t1:c.751_754del	NP_000109.1:p.Leu251SerfsTer?
NM_001114753.2:c.751_754del , LRG_589t2:c.751_754del	NP_001108225.1:p.Leu251SerfsTer?
NM_001278138.1:c.205_208del	NP_001265067.1:p.Leu69SerfsTer?
NM_001114753.3:c.751_754del MANE Select	NP_001108225.1:p.Leu251SerfsTer?
NM_001278138.2:c.205_208del	NP_001265067.1:p.Leu69SerfsTer?