Canonical Allele Identifier: CA590939419

Gene: ENG

Linked Data

• dbSNP Id: rs1426576715
• gnomAD v2: 9-130586812-T-TC
• gnomAD v3: 9-127824533-T-TC
• gnomAD v4: 9-127824533-T-TC
• MyVariant Identifiers: chr9:g.130586812_130586813insC (hg19) ; chr9:g.127824533_127824534insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824533_127824534insC , CM000671.2:g.127824533_127824534insC	GRCh38
NC_000009.11:g.130586812_130586813insC , CM000671.1:g.130586812_130586813insC	GRCh37
NC_000009.10:g.129626633_129626634insC	NCBI36
NG_009551.1:g.35235_35236insG , LRG_589:g.35235_35236insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.446-88_446-87insG	ENSP00000479015.1:n.446-88_446-87insG
ENST00000373203.9:c.992-88_992-87insG MANE Select	ENSP00000362299.4:n.992-88_992-87insG
ENST00000344849.4:c.992-88_992-87insG	ENSP00000341917.3:n.992-88_992-87insG
ENST00000373203.8:c.992-88_992-87insG	ENSP00000362299.4:n.992-88_992-87insG
ENST00000480266.5:c.446-88_446-87insG	ENSP00000479015.1:n.446-88_446-87insG
NM_000118.3:c.992-88_992-87insG , LRG_589t1:c.992-88_992-87insG	NP_000109.1:n.992-88_992-87insG
NM_001114753.2:c.992-88_992-87insG , LRG_589t2:c.992-88_992-87insG	NP_001108225.1:n.992-88_992-87insG
NM_001278138.1:c.446-88_446-87insG	NP_001265067.1:n.446-88_446-87insG
NM_001114753.3:c.992-88_992-87insG MANE Select	NP_001108225.1:n.992-88_992-87insG
NM_001278138.2:c.446-88_446-87insG	NP_001265067.1:n.446-88_446-87insG