Canonical Allele Identifier: CA2954042607
Gene: ENG HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825632G>T , CM000671.2:g.127825632G>T GRCh38
NC_000009.11:g.130587911G>T , CM000671.1:g.130587911G>T GRCh37
NC_000009.10:g.129627732G>T NCBI36
NG_009551.1:g.34137C>A , LRG_589:g.34137C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.143+63C>A ENSP00000479015.1:n.143+63C>A
ENST00000373203.9:c.689+63C>A MANE Select ENSP00000362299.4:n.689+63C>A
ENST00000344849.4:c.689+63C>A ENSP00000341917.3:n.689+63C>A
ENST00000373203.8:c.689+63C>A ENSP00000362299.4:n.689+63C>A
ENST00000480266.5:c.143+63C>A ENSP00000479015.1:n.143+63C>A
NM_000118.3:c.689+63C>A , LRG_589t1:c.689+63C>A NP_000109.1:n.689+63C>A
NM_001114753.2:c.689+63C>A , LRG_589t2:c.689+63C>A NP_001108225.1:n.689+63C>A
NM_001278138.1:c.143+63C>A NP_001265067.1:n.143+63C>A
XR_001746952.2:n.82+174G>T
NM_001114753.3:c.689+63C>A MANE Select NP_001108225.1:n.689+63C>A
NM_001278138.2:c.143+63C>A NP_001265067.1:n.143+63C>A
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