This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA3168996650
Community Standard Title: NM_001114753.3(ENG):c.689+111C=
Gene: ENG HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825584G= , CM000671.2:g.127825584G= GRCh38
NC_000009.11:g.130587863G= , CM000671.1:g.130587863G= GRCh37
NC_000009.10:g.129627684G= NCBI36
NG_009551.1:g.34185C= , LRG_589:g.34185C=

Transcript Alleles

HGVS Amino-acid Change
NM_001114753.3:c.689+111C= MANE Select NP_001108225.1:n.689+111C=
ENST00000373203.9:c.689+111C= MANE Select ENSP00000362299.4:n.689+111C=
NM_000118.3:c.689+111C= , LRG_589t1:c.689+111C= NP_000109.1:n.689+111C=
NM_001114753.2:c.689+111C= , LRG_589t2:c.689+111C= NP_001108225.1:n.689+111C=
NM_001278138.1:c.143+111C= NP_001265067.1:n.143+111C=
NM_001278138.2:c.143+111C= NP_001265067.1:n.143+111C=
ENST00000344849.4:c.689+111C= ENSP00000341917.3:n.689+111C=
ENST00000373203.8:c.689+111C= ENSP00000362299.4:n.689+111C=
ENST00000480266.5:c.143+111C= ENSP00000479015.1:n.143+111C=
ENST00000480266.6:c.143+111C= ENSP00000479015.1:n.143+111C=
XR_001746952.2:n.82+126G=
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