Canonical Allele Identifier: CA2579461395
Gene: ENG HGNC NCBI

Linked Data

gnomAD v4: 9-127818637-TG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127818639del , CM000671.2:g.127818639del GRCh38
NC_000009.11:g.130580918del , CM000671.1:g.130580918del GRCh37
NC_000009.10:g.129620739del NCBI36
NG_009551.1:g.41131del , LRG_589:g.41131del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.882+78del ENSP00000479015.1:n.882+78del
ENST00000373203.9:c.1428+78del MANE Select ENSP00000362299.4:n.1428+78del
ENST00000344849.4:c.1428+78del ENSP00000341917.3:n.1428+78del
ENST00000373203.8:c.1428+78del ENSP00000362299.4:n.1428+78del
ENST00000480266.5:c.882+78del ENSP00000479015.1:n.882+78del
NM_000118.3:c.1428+78del , LRG_589t1:c.1428+78del NP_000109.1:n.1428+78del
NM_001114753.2:c.1428+78del , LRG_589t2:c.1428+78del NP_001108225.1:n.1428+78del
NM_001278138.1:c.882+78del NP_001265067.1:n.882+78del
NR_136302.1:n.1496del
NM_001114753.3:c.1428+78del MANE Select NP_001108225.1:n.1428+78del
NM_001278138.2:c.882+78del NP_001265067.1:n.882+78del
Search 100 bp 5'
Search 100 bp 3'