Canonical Allele Identifier: CA1879977324
Community Standard Title: NM_001114753.3(ENG):c.509_511dup (p.Leu170dup)
Gene: ENG HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127826528_127826530dup , CM000671.2:g.127826528_127826530dup GRCh38
NC_000009.11:g.130588807_130588809dup , CM000671.1:g.130588807_130588809dup GRCh37
NC_000009.10:g.129628628_129628630dup NCBI36
NG_009551.1:g.33245_33247dup , LRG_589:g.33245_33247dup

Transcript Alleles

HGVS Amino-acid Change
NM_001114753.3:c.509_511dup MANE Select NP_001108225.1:p.Leu170_Arg171insLeu
ENST00000373203.9:c.509_511dup MANE Select ENSP00000362299.4:p.Leu170_Arg171insLeu
NM_000118.3:c.509_511dup , LRG_589t1:c.509_511dup NP_000109.1:p.Leu170_Arg171insLeu
NM_001114753.2:c.509_511dup , LRG_589t2:c.509_511dup NP_001108225.1:p.Leu170_Arg171insLeu
NM_001278138.1:c.-38_-36dup NP_001265067.1:n.-38_-36dup
NM_001278138.2:c.-38_-36dup NP_001265067.1:n.-38_-36dup
ENST00000344849.4:c.509_511dup ENSP00000341917.3:p.Leu170_Arg171insLeu
ENST00000373203.8:c.509_511dup ENSP00000362299.4:p.Leu170_Arg171insLeu
ENST00000462196.1:n.409_411dup
ENST00000480266.5:c.-38_-36dup ENSP00000479015.1:n.-38_-36dup
ENST00000480266.6:c.-38_-36dup ENSP00000479015.1:n.-38_-36dup
XR_001746952.2:n.82+1070_82+1072dup
Search 100 bp 5'
Search 100 bp 3'