Canonical Allele Identifier: CA645372488

Gene: ENG

Linked Data

• ClinVar Variation Id: 432681
• ClinVar RCV Id: RCV002431448 ; RCV002524092
• dbSNP Id: rs1554810051
• MyVariant Identifiers: chr9:g.130586632_130586633del (hg19) ; chr9:g.127824353_127824354del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824354_127824355del , CM000671.2:g.127824354_127824355del	GRCh38
NC_000009.11:g.130586633_130586634del , CM000671.1:g.130586633_130586634del	GRCh37
NC_000009.10:g.129626454_129626455del	NCBI36
NG_009551.1:g.35415_35416del , LRG_589:g.35415_35416del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.538_539del	ENSP00000479015.1:p.Lys180ValfsTer?
ENST00000373203.9:c.1084_1085del MANE Select	ENSP00000362299.4:p.Lys362ValfsTer?
ENST00000344849.4:c.1084_1085del	ENSP00000341917.3:p.Lys362ValfsTer?
ENST00000373203.8:c.1084_1085del	ENSP00000362299.4:p.Lys362ValfsTer?
ENST00000480266.5:c.538_539del	ENSP00000479015.1:p.Lys180ValfsTer?
ENST00000486329.1:n.52_53del
NM_000118.3:c.1084_1085del , LRG_589t1:c.1084_1085del	NP_000109.1:p.Lys362ValfsTer?
NM_001114753.2:c.1084_1085del , LRG_589t2:c.1084_1085del	NP_001108225.1:p.Lys362ValfsTer?
NM_001278138.1:c.538_539del	NP_001265067.1:p.Lys180ValfsTer?
NM_001114753.3:c.1084_1085del MANE Select	NP_001108225.1:p.Lys362ValfsTer?
NM_001278138.2:c.538_539del	NP_001265067.1:p.Lys180ValfsTer?