Canonical Allele Identifier: CA913186018

Gene: ENG

Linked Data

• ClinVar Variation Id: 1701581
• ClinVar RCV Id: RCV002276212 ; RCV002434618 ; RCV003096217 ; RCV003138147
• dbSNP Id: rs2131885751

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824316_127824317delinsGC , CM000671.2:g.127824316_127824317delinsGC	GRCh38
NC_000009.11:g.130586595_130586596delinsGC , CM000671.1:g.130586595_130586596delinsGC	GRCh37
NC_000009.10:g.129626416_129626417delinsGC	NCBI36
NG_009551.1:g.35452_35453delinsGC , LRG_589:g.35452_35453delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.575_576delinsGC	ENSP00000479015.1:p.Lys192Ser
ENST00000373203.9:c.1121_1122delinsGC MANE Select	ENSP00000362299.4:p.Lys374Ser
ENST00000344849.4:c.1121_1122delinsGC	ENSP00000341917.3:p.Lys374Ser
ENST00000373203.8:c.1121_1122delinsGC	ENSP00000362299.4:p.Lys374Ser
ENST00000480266.5:c.575_576delinsGC	ENSP00000479015.1:p.Lys192Ser
ENST00000486329.1:n.89_90delinsGC
NM_000118.3:c.1121_1122delinsGC , LRG_589t1:c.1121_1122delinsGC	NP_000109.1:p.Lys374Ser
NM_001114753.2:c.1121_1122delinsGC , LRG_589t2:c.1121_1122delinsGC	NP_001108225.1:p.Lys374Ser
NM_001278138.1:c.575_576delinsGC	NP_001265067.1:p.Lys192Ser
NM_001114753.3:c.1121_1122delinsGC MANE Select	NP_001108225.1:p.Lys374Ser
NM_001278138.2:c.575_576delinsGC	NP_001265067.1:p.Lys192Ser