Canonical Allele Identifier: CA2691807695

Gene: ENG

Linked Data

• gnomAD v4: 9-127824448-TGTGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824451_127824455del , CM000671.2:g.127824451_127824455del	GRCh38
NC_000009.11:g.130586730_130586734del , CM000671.1:g.130586730_130586734del	GRCh37
NC_000009.10:g.129626551_129626555del	NCBI36
NG_009551.1:g.35316_35320del , LRG_589:g.35316_35320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.446-7_446-3del	ENSP00000479015.1:n.446-7_446-3del
ENST00000373203.9:c.992-7_992-3del MANE Select	ENSP00000362299.4:n.992-7_992-3del
ENST00000344849.4:c.992-7_992-3del	ENSP00000341917.3:n.992-7_992-3del
ENST00000373203.8:c.992-7_992-3del	ENSP00000362299.4:n.992-7_992-3del
ENST00000480266.5:c.446-7_446-3del	ENSP00000479015.1:n.446-7_446-3del
NM_000118.3:c.992-7_992-3del , LRG_589t1:c.992-7_992-3del	NP_000109.1:n.992-7_992-3del
NM_001114753.2:c.992-7_992-3del , LRG_589t2:c.992-7_992-3del	NP_001108225.1:n.992-7_992-3del
NM_001278138.1:c.446-7_446-3del	NP_001265067.1:n.446-7_446-3del
NM_001114753.3:c.992-7_992-3del MANE Select	NP_001108225.1:n.992-7_992-3del
NM_001278138.2:c.446-7_446-3del	NP_001265067.1:n.446-7_446-3del