Canonical Allele Identifier: CA16618751

Gene: ENG

Linked Data

• ClinVar Variation Id: 419983
• ClinVar RCV Id: RCV000478361 ; RCV003593964
• dbSNP Id: rs1064794221
• MyVariant Identifiers: chr9:g.130587618_130587620del (hg19) ; chr9:g.127825339_127825341del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825340_127825342del , CM000671.2:g.127825340_127825342del	GRCh38
NC_000009.11:g.130587619_130587621del , CM000671.1:g.130587619_130587621del	GRCh37
NC_000009.10:g.129627440_129627442del	NCBI36
NG_009551.1:g.34428_34430del , LRG_589:g.34428_34430del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.160_162del	ENSP00000479015.1:p.Val54del
ENST00000373203.9:c.706_708del MANE Select	ENSP00000362299.4:p.Val236del
ENST00000344849.4:c.706_708del	ENSP00000341917.3:p.Val236del
ENST00000373203.8:c.706_708del	ENSP00000362299.4:p.Val236del
ENST00000480266.5:c.160_162del	ENSP00000479015.1:p.Val54del
NM_000118.3:c.706_708del , LRG_589t1:c.706_708del	NP_000109.1:p.Val236del
NM_001114753.2:c.706_708del , LRG_589t2:c.706_708del	NP_001108225.1:p.Val236del
NM_001278138.1:c.160_162del	NP_001265067.1:p.Val54del
NM_001114753.3:c.706_708del MANE Select	NP_001108225.1:p.Val236del
NM_001278138.2:c.160_162del	NP_001265067.1:p.Val54del