Canonical Allele Identifier: CA16618747
Gene: ENG HGNC NCBI

Linked Data

dbSNP Id: rs1064793734
MyVariant Identifiers: chr9:g.130586593_130586596del (hg19) chr9:g.127824314_127824317del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824319_127824322del , CM000671.2:g.127824319_127824322del GRCh38
NC_000009.11:g.130586598_130586601del , CM000671.1:g.130586598_130586601del GRCh37
NC_000009.10:g.129626419_129626422del NCBI36
NG_009551.1:g.35452_35455del , LRG_589:g.35452_35455del

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.575_578del ENSP00000479015.1:p.Lys192SerfsTer6
ENST00000373203.9:c.1121_1124del MANE Select ENSP00000362299.4:p.Lys374SerfsTer6
ENST00000344849.4:c.1121_1124del ENSP00000341917.3:p.Lys374SerfsTer6
ENST00000373203.8:c.1121_1124del ENSP00000362299.4:p.Lys374SerfsTer6
ENST00000480266.5:c.575_578del ENSP00000479015.1:p.Lys192SerfsTer6
ENST00000486329.1:n.89_92del
NM_000118.3:c.1121_1124del , LRG_589t1:c.1121_1124del NP_000109.1:p.Lys374SerfsTer6
NM_001114753.2:c.1121_1124del , LRG_589t2:c.1121_1124del NP_001108225.1:p.Lys374SerfsTer6
NM_001278138.1:c.575_578del NP_001265067.1:p.Lys192SerfsTer6
NM_001114753.3:c.1121_1124del MANE Select NP_001108225.1:p.Lys374SerfsTer6
NM_001278138.2:c.575_578del NP_001265067.1:p.Lys192SerfsTer6
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