Canonical Allele Identifier: CA2691810581

Gene: ENG

Linked Data

• gnomAD v4: 9-127854335-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127854338del , CM000671.2:g.127854338del	GRCh38
NC_000009.11:g.130616617del , CM000671.1:g.130616617del	GRCh37
NC_000009.10:g.129656438del	NCBI36
NG_009551.1:g.5433del , LRG_589:g.5433del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373203.9:c.20del MANE Select	ENSP00000362299.4:p.Pro7LeufsTer?
ENST00000344849.4:c.20del	ENSP00000341917.3:p.Pro7LeufsTer?
ENST00000373203.8:c.20del	ENSP00000362299.4:p.Pro7LeufsTer?
NM_000118.3:c.20del , LRG_589t1:c.20del	NP_000109.1:p.Pro7LeufsTer?
NM_001114753.2:c.20del , LRG_589t2:c.20del	NP_001108225.1:p.Pro7LeufsTer?
NM_001114753.3:c.20del MANE Select	NP_001108225.1:p.Pro7LeufsTer?