Canonical Allele Identifier: CA2579461238
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824287_127824292dup , CM000671.2:g.127824287_127824292dup GRCh38
NC_000009.11:g.130586566_130586571dup , CM000671.1:g.130586566_130586571dup GRCh37
NC_000009.10:g.129626387_129626392dup NCBI36
NG_009551.1:g.35480_35485dup , LRG_589:g.35480_35485dup

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.588+15_588+20dup ENSP00000479015.1:n.588+15_588+20dup
ENST00000373203.9:c.1134+15_1134+20dup MANE Select ENSP00000362299.4:n.1134+15_1134+20dup
ENST00000344849.4:c.1134+15_1134+20dup ENSP00000341917.3:n.1134+15_1134+20dup
ENST00000373203.8:c.1134+15_1134+20dup ENSP00000362299.4:n.1134+15_1134+20dup
ENST00000480266.5:c.588+15_588+20dup ENSP00000479015.1:n.588+15_588+20dup
ENST00000486329.1:n.102+15_102+20dup
NM_000118.3:c.1134+15_1134+20dup , LRG_589t1:c.1134+15_1134+20dup NP_000109.1:n.1134+15_1134+20dup
NM_001114753.2:c.1134+15_1134+20dup , LRG_589t2:c.1134+15_1134+20dup NP_001108225.1:n.1134+15_1134+20dup
NM_001278138.1:c.588+15_588+20dup NP_001265067.1:n.588+15_588+20dup
NM_001114753.3:c.1134+15_1134+20dup MANE Select NP_001108225.1:n.1134+15_1134+20dup
NM_001278138.2:c.588+15_588+20dup NP_001265067.1:n.588+15_588+20dup