Canonical Allele Identifier: CA1879985488
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127818108G= , CM000671.2:g.127818108G= GRCh38
NC_000009.11:g.130580387G= , CM000671.1:g.130580387G= GRCh37
NC_000009.10:g.129620208G= NCBI36
NG_009551.1:g.41661C= , LRG_589:g.41661C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.1140+12C= ENSP00000479015.1:n.1140+12C=
ENST00000373203.9:c.1686+12C= MANE Select ENSP00000362299.4:n.1686+12C=
ENST00000344849.4:c.1686+12C= ENSP00000341917.3:n.1686+12C=
ENST00000373203.8:c.1686+12C= ENSP00000362299.4:n.1686+12C=
ENST00000480266.5:c.1140+12C= ENSP00000479015.1:n.1140+12C=
NM_000118.3:c.1686+12C= , LRG_589t1:c.1686+12C= NP_000109.1:n.1686+12C=
NM_001114753.2:c.1686+12C= , LRG_589t2:c.1686+12C= NP_001108225.1:n.1686+12C=
NM_001278138.1:c.1140+12C= NP_001265067.1:n.1140+12C=
NR_136302.1:n.1378-203G=
NM_001114753.3:c.1686+12C= MANE Select NP_001108225.1:n.1686+12C=
NM_001278138.2:c.1140+12C= NP_001265067.1:n.1140+12C=