Canonical Allele Identifier: CA1139659933

Gene: ENG

Linked Data

• ClinVar Variation Id: 983199
• ClinVar RCV Id: RCV001263069
• dbSNP Id: rs1830385549

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818354_127818373dup , CM000671.2:g.127818354_127818373dup	GRCh38
NC_000009.11:g.130580633_130580652dup , CM000671.1:g.130580633_130580652dup	GRCh37
NC_000009.10:g.129620454_129620473dup	NCBI36
NG_009551.1:g.41400_41419dup , LRG_589:g.41400_41419dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.891_910dup	ENSP00000479015.1:p.Phe304CysfsTer12
ENST00000373203.9:c.1437_1456dup MANE Select	ENSP00000362299.4:p.Phe486CysfsTer12
ENST00000344849.4:c.1437_1456dup	ENSP00000341917.3:p.Phe486CysfsTer12
ENST00000373203.8:c.1437_1456dup	ENSP00000362299.4:p.Phe486CysfsTer12
ENST00000480266.5:c.891_910dup	ENSP00000479015.1:p.Phe304CysfsTer12
NM_000118.3:c.1437_1456dup , LRG_589t1:c.1437_1456dup	NP_000109.1:p.Phe486CysfsTer12
NM_001114753.2:c.1437_1456dup , LRG_589t2:c.1437_1456dup	NP_001108225.1:p.Phe486CysfsTer12
NM_001278138.1:c.891_910dup	NP_001265067.1:p.Phe304CysfsTer12
NR_136302.1:n.1421_1440dup
NM_001114753.3:c.1437_1456dup MANE Select	NP_001108225.1:p.Phe486CysfsTer12
NM_001278138.2:c.891_910dup	NP_001265067.1:p.Phe304CysfsTer12