Canonical Allele Identifier: CA2695211272

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819959_127819969dup , CM000671.2:g.127819959_127819969dup	GRCh38
NC_000009.11:g.130582238_130582248dup , CM000671.1:g.130582238_130582248dup	GRCh37
NC_000009.10:g.129622059_129622069dup	NCBI36
NG_009551.1:g.39800_39810dup , LRG_589:g.39800_39810dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.657_667dup	ENSP00000479015.1:p.Leu223SerfsTer20
ENST00000373203.9:c.1203_1213dup MANE Select	ENSP00000362299.4:p.Leu405SerfsTer20
ENST00000344849.4:c.1203_1213dup	ENSP00000341917.3:p.Leu405SerfsTer20
ENST00000373203.8:c.1203_1213dup	ENSP00000362299.4:p.Leu405SerfsTer20
ENST00000480266.5:c.657_667dup	ENSP00000479015.1:p.Leu223SerfsTer20
ENST00000486329.1:n.171_181dup
NM_000118.3:c.1203_1213dup , LRG_589t1:c.1203_1213dup	NP_000109.1:p.Leu405SerfsTer20
NM_001114753.2:c.1203_1213dup , LRG_589t2:c.1203_1213dup	NP_001108225.1:p.Leu405SerfsTer20
NM_001278138.1:c.657_667dup	NP_001265067.1:p.Leu223SerfsTer20
NR_136302.1:n.1569-1236_1569-1226dup
NM_001114753.3:c.1203_1213dup MANE Select	NP_001108225.1:p.Leu405SerfsTer20
NM_001278138.2:c.657_667dup	NP_001265067.1:p.Leu223SerfsTer20