Canonical Allele Identifier: CA2695211399
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127854322_127854332dup , CM000671.2:g.127854322_127854332dup GRCh38
NC_000009.11:g.130616601_130616611dup , CM000671.1:g.130616601_130616611dup GRCh37
NC_000009.10:g.129656422_129656432dup NCBI36
NG_009551.1:g.5437_5447dup , LRG_589:g.5437_5447dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000373203.9:c.24_34dup MANE Select ENSP00000362299.4:p.Leu12ArgfsTer?
ENST00000344849.4:c.24_34dup ENSP00000341917.3:p.Leu12ArgfsTer?
ENST00000373203.8:c.24_34dup ENSP00000362299.4:p.Leu12ArgfsTer?
NM_000118.3:c.24_34dup , LRG_589t1:c.24_34dup NP_000109.1:p.Leu12ArgfsTer?
NM_001114753.2:c.24_34dup , LRG_589t2:c.24_34dup NP_001108225.1:p.Leu12ArgfsTer?
NM_001114753.3:c.24_34dup MANE Select NP_001108225.1:p.Leu12ArgfsTer?