Canonical Allele Identifier: CA2840996438
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825387T>C , CM000671.2:g.127825387T>C GRCh38
NC_000009.11:g.130587666T>C , CM000671.1:g.130587666T>C GRCh37
NC_000009.10:g.129627487T>C NCBI36
NG_009551.1:g.34382A>G , LRG_589:g.34382A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.144-30A>G ENSP00000479015.1:n.144-30A>G
ENST00000373203.9:c.690-30A>G MANE Select ENSP00000362299.4:n.690-30A>G
ENST00000344849.4:c.690-30A>G ENSP00000341917.3:n.690-30A>G
ENST00000373203.8:c.690-30A>G ENSP00000362299.4:n.690-30A>G
ENST00000480266.5:c.144-30A>G ENSP00000479015.1:n.144-30A>G
NM_000118.3:c.690-30A>G , LRG_589t1:c.690-30A>G NP_000109.1:n.690-30A>G
NM_001114753.2:c.690-30A>G , LRG_589t2:c.690-30A>G NP_001108225.1:n.690-30A>G
NM_001278138.1:c.144-30A>G NP_001265067.1:n.144-30A>G
XR_001746952.2:n.11T>C
NM_001114753.3:c.690-30A>G MANE Select NP_001108225.1:n.690-30A>G
NM_001278138.2:c.144-30A>G NP_001265067.1:n.144-30A>G