Canonical Allele Identifier: CA2695211280

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819983_127819984dup , CM000671.2:g.127819983_127819984dup	GRCh38
NC_000009.11:g.130582262_130582263dup , CM000671.1:g.130582262_130582263dup	GRCh37
NC_000009.10:g.129622083_129622084dup	NCBI36
NG_009551.1:g.39787_39788dup , LRG_589:g.39787_39788dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.644_645dup	ENSP00000479015.1:p.Asp216ArgfsTer24
ENST00000373203.9:c.1190_1191dup MANE Select	ENSP00000362299.4:p.Asp398ArgfsTer24
ENST00000344849.4:c.1190_1191dup	ENSP00000341917.3:p.Asp398ArgfsTer24
ENST00000373203.8:c.1190_1191dup	ENSP00000362299.4:p.Asp398ArgfsTer24
ENST00000480266.5:c.644_645dup	ENSP00000479015.1:p.Asp216ArgfsTer24
ENST00000486329.1:n.158_159dup
NM_000118.3:c.1190_1191dup , LRG_589t1:c.1190_1191dup	NP_000109.1:p.Asp398ArgfsTer24
NM_001114753.2:c.1190_1191dup , LRG_589t2:c.1190_1191dup	NP_001108225.1:p.Asp398ArgfsTer24
NM_001278138.1:c.644_645dup	NP_001265067.1:p.Asp216ArgfsTer24
NR_136302.1:n.1569-1212_1569-1211dup
NM_001114753.3:c.1190_1191dup MANE Select	NP_001108225.1:p.Asp398ArgfsTer24
NM_001278138.2:c.644_645dup	NP_001265067.1:p.Asp216ArgfsTer24