Canonical Allele Identifier: CA590939413

Gene: ENG

Linked Data

• dbSNP Id: rs1564455312
• gnomAD v2: 9-130586752-CGGCT-C
• gnomAD v4: 9-127824473-CGGCT-C
• MyVariant Identifiers: chr9:g.130586753_130586756del (hg19) ; chr9:g.127824474_127824477del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824476_127824479del , CM000671.2:g.127824476_127824479del	GRCh38
NC_000009.11:g.130586755_130586758del , CM000671.1:g.130586755_130586758del	GRCh37
NC_000009.10:g.129626576_129626579del	NCBI36
NG_009551.1:g.35292_35295del , LRG_589:g.35292_35295del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.446-31_446-28del	ENSP00000479015.1:n.446-31_446-28del
ENST00000373203.9:c.992-31_992-28del MANE Select	ENSP00000362299.4:n.992-31_992-28del
ENST00000344849.4:c.992-31_992-28del	ENSP00000341917.3:n.992-31_992-28del
ENST00000373203.8:c.992-31_992-28del	ENSP00000362299.4:n.992-31_992-28del
ENST00000480266.5:c.446-31_446-28del	ENSP00000479015.1:n.446-31_446-28del
NM_000118.3:c.992-31_992-28del , LRG_589t1:c.992-31_992-28del	NP_000109.1:n.992-31_992-28del
NM_001114753.2:c.992-31_992-28del , LRG_589t2:c.992-31_992-28del	NP_001108225.1:n.992-31_992-28del
NM_001278138.1:c.446-31_446-28del	NP_001265067.1:n.446-31_446-28del
NM_001114753.3:c.992-31_992-28del MANE Select	NP_001108225.1:n.992-31_992-28del
NM_001278138.2:c.446-31_446-28del	NP_001265067.1:n.446-31_446-28del