Canonical Allele Identifier: CA590603203
Gene: ENG HGNC NCBI

Linked Data

dbSNP Id: rs1564455153
gnomAD v2: 9-130586573-GT-G
gnomAD v4: 9-127824294-GT-G
MyVariant Identifiers: chr9:g.130586574del (hg19) chr9:g.127824295del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824296del , CM000671.2:g.127824296del GRCh38
NC_000009.11:g.130586575del , CM000671.1:g.130586575del GRCh37
NC_000009.10:g.129626396del NCBI36
NG_009551.1:g.35474del , LRG_589:g.35474del

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.588+9del ENSP00000479015.1:n.588+9del
ENST00000373203.9:c.1134+9del MANE Select ENSP00000362299.4:n.1134+9del
ENST00000344849.4:c.1134+9del ENSP00000341917.3:n.1134+9del
ENST00000373203.8:c.1134+9del ENSP00000362299.4:n.1134+9del
ENST00000480266.5:c.588+9del ENSP00000479015.1:n.588+9del
ENST00000486329.1:n.102+9del
NM_000118.3:c.1134+9del , LRG_589t1:c.1134+9del NP_000109.1:n.1134+9del
NM_001114753.2:c.1134+9del , LRG_589t2:c.1134+9del NP_001108225.1:n.1134+9del
NM_001278138.1:c.588+9del NP_001265067.1:n.588+9del
NM_001114753.3:c.1134+9del MANE Select NP_001108225.1:n.1134+9del
NM_001278138.2:c.588+9del NP_001265067.1:n.588+9del
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