Canonical Allele Identifier: CA1129278562
Gene: ENG HGNC NCBI

Linked Data

dbSNP Id: rs1695053401
gnomAD v3: 9-127854463-AGGCGGCCGGAGCGACGGCGTCC-A
gnomAD v4: 9-127854463-AGGCGGCCGGAGCGACGGCGTCC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127854464_127854485del , CM000671.2:g.127854464_127854485del GRCh38
NC_000009.11:g.130616743_130616764del , CM000671.1:g.130616743_130616764del GRCh37
NC_000009.10:g.129656564_129656585del NCBI36
NG_009551.1:g.5284_5305del , LRG_589:g.5284_5305del

Transcript Alleles

HGVS Amino-acid change
ENST00000373203.9:c.-130_-109del MANE Select ENSP00000362299.4:n.-130_-109del
ENST00000344849.4:c.-130_-109del ENSP00000341917.3:n.-130_-109del
ENST00000373203.8:c.-130_-109del ENSP00000362299.4:n.-130_-109del
NM_000118.3:c.-130_-109del , LRG_589t1:c.-130_-109del NP_000109.1:n.-130_-109del
NM_001114753.2:c.-130_-109del , LRG_589t2:c.-130_-109del NP_001108225.1:n.-130_-109del
NM_001114753.3:c.-130_-109del MANE Select NP_001108225.1:n.-130_-109del
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