Canonical Allele Identifier: CA2695211338

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829723dup , CM000671.2:g.127829723dup	GRCh38
NC_000009.11:g.130592002dup , CM000671.1:g.130592002dup	GRCh37
NC_000009.10:g.129631823dup	NCBI36
NG_009551.1:g.30046dup , LRG_589:g.30046dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-223dup	ENSP00000479015.1:n.-223dup
ENST00000373203.9:c.324dup MANE Select	ENSP00000362299.4:p.Leu109SerfsTer?
ENST00000344849.4:c.324dup	ENSP00000341917.3:p.Leu109SerfsTer?
ENST00000373203.8:c.324dup	ENSP00000362299.4:p.Leu109SerfsTer?
ENST00000462196.1:n.82dup
ENST00000480266.5:c.-223dup	ENSP00000479015.1:n.-223dup
NM_000118.3:c.324dup , LRG_589t1:c.324dup	NP_000109.1:p.Leu109SerfsTer?
NM_001114753.2:c.324dup , LRG_589t2:c.324dup	NP_001108225.1:p.Leu109SerfsTer?
NM_001278138.1:c.-223dup	NP_001265067.1:n.-223dup
XR_001746952.2:n.83-2675dup
NM_001114753.3:c.324dup MANE Select	NP_001108225.1:p.Leu109SerfsTer?
NM_001278138.2:c.-223dup	NP_001265067.1:n.-223dup