Canonical Allele Identifier: CA349583

Gene: ENG

Linked Data

• ClinVar Variation Id: 220826
• ClinVar RCV Id: RCV000205417 ; RCV001041455 ; RCV002363031 ; RCV003480553
• dbSNP Id: rs864622666
• MyVariant Identifiers: chr9:g.130588020_130588023del (hg19) ; chr9:g.127825741_127825744del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825745_127825748del , CM000671.2:g.127825745_127825748del	GRCh38
NC_000009.11:g.130588024_130588027del , CM000671.1:g.130588024_130588027del	GRCh37
NC_000009.10:g.129627845_129627848del	NCBI36
NG_009551.1:g.34025_34028del , LRG_589:g.34025_34028del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.94_97del	ENSP00000479015.1:p.Gly32ThrfsTer7
ENST00000373203.9:c.640_643del MANE Select	ENSP00000362299.4:p.Gly214ThrfsTer7
ENST00000344849.4:c.640_643del	ENSP00000341917.3:p.Gly214ThrfsTer7
ENST00000373203.8:c.640_643del	ENSP00000362299.4:p.Gly214ThrfsTer7
ENST00000480266.5:c.94_97del	ENSP00000479015.1:p.Gly32ThrfsTer7
NM_000118.3:c.640_643del , LRG_589t1:c.640_643del	NP_000109.1:p.Gly214ThrfsTer7
NM_001114753.2:c.640_643del , LRG_589t2:c.640_643del	NP_001108225.1:p.Gly214ThrfsTer7
NM_001278138.1:c.94_97del	NP_001265067.1:p.Gly32ThrfsTer7
XR_001746952.2:n.82+287_82+290del
NM_001114753.3:c.640_643del MANE Select	NP_001108225.1:p.Gly214ThrfsTer7
NM_001278138.2:c.94_97del	NP_001265067.1:p.Gly32ThrfsTer7