Canonical Allele Identifier: CA2840996412

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824805dup , CM000671.2:g.127824805dup	GRCh38
NC_000009.11:g.130587084dup , CM000671.1:g.130587084dup	GRCh37
NC_000009.10:g.129626905dup	NCBI36
NG_009551.1:g.34964dup , LRG_589:g.34964dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.440dup	ENSP00000479015.1:p.Ser147ArgfsTer5
ENST00000373203.9:c.986dup MANE Select	ENSP00000362299.4:p.Ser329ArgfsTer5
ENST00000344849.4:c.986dup	ENSP00000341917.3:p.Ser329ArgfsTer5
ENST00000373203.8:c.986dup	ENSP00000362299.4:p.Ser329ArgfsTer5
ENST00000480266.5:c.440dup	ENSP00000479015.1:p.Ser147ArgfsTer5
NM_000118.3:c.986dup , LRG_589t1:c.986dup	NP_000109.1:p.Ser329ArgfsTer5
NM_001114753.2:c.986dup , LRG_589t2:c.986dup	NP_001108225.1:p.Ser329ArgfsTer5
NM_001278138.1:c.440dup	NP_001265067.1:p.Ser147ArgfsTer5
NM_001114753.3:c.986dup MANE Select	NP_001108225.1:p.Ser329ArgfsTer5
NM_001278138.2:c.440dup	NP_001265067.1:p.Ser147ArgfsTer5