Canonical Allele Identifier: CA16618748

Gene: ENG

Linked Data

• ClinVar Variation Id: 422216
• ClinVar RCV Id: RCV000481830 ; RCV002446937
• dbSNP Id: rs1064795636
• MyVariant Identifiers: chr9:g.130587175del (hg19) ; chr9:g.127824896del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824897del , CM000671.2:g.127824897del	GRCh38
NC_000009.11:g.130587176del , CM000671.1:g.130587176del	GRCh37
NC_000009.10:g.129626997del	NCBI36
NG_009551.1:g.34873del , LRG_589:g.34873del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.349del	ENSP00000479015.1:p.Leu117SerfsTer?
ENST00000373203.9:c.895del MANE Select	ENSP00000362299.4:p.Leu299SerfsTer?
ENST00000344849.4:c.895del	ENSP00000341917.3:p.Leu299SerfsTer?
ENST00000373203.8:c.895del	ENSP00000362299.4:p.Leu299SerfsTer?
ENST00000480266.5:c.349del	ENSP00000479015.1:p.Leu117SerfsTer?
NM_000118.3:c.895del , LRG_589t1:c.895del	NP_000109.1:p.Leu299SerfsTer?
NM_001114753.2:c.895del , LRG_589t2:c.895del	NP_001108225.1:p.Leu299SerfsTer?
NM_001278138.1:c.349del	NP_001265067.1:p.Leu117SerfsTer?
NM_001114753.3:c.895del MANE Select	NP_001108225.1:p.Leu299SerfsTer?
NM_001278138.2:c.349del	NP_001265067.1:p.Leu117SerfsTer?