Canonical Allele Identifier: CA5252762

Gene: ENG

Linked Data

• ClinVar Variation Id: 365086
• ClinVar RCV Id: RCV000266917 ; RCV000324355 ; RCV001510674
• dbSNP Id: rs762494923
• ExAC: 9:130580661 A / ATGGG
• gnomAD v2: 9-130580661-A-ATGGG
• gnomAD v3: 9-127818382-A-ATGGG
• gnomAD v4: 9-127818382-A-ATGGG
• MyVariant Identifiers: chr9:g.130580662_130580665dupTGGG (hg19) ; chr9:g.130580661_130580662insTGGG (hg19) ; chr9:g.127818383_127818386dupTGGG (hg38) ; chr9:g.127818382_127818383insTGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818384_127818387dup , CM000671.2:g.127818384_127818387dup	GRCh38
NC_000009.11:g.130580663_130580666dup , CM000671.1:g.130580663_130580666dup	GRCh37
NC_000009.10:g.129620484_129620487dup	NCBI36
NG_009551.1:g.41383_41386dup , LRG_589:g.41383_41386dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.883-9_883-6dup	ENSP00000479015.1:n.883-9_883-6dup
ENST00000373203.9:c.1429-9_1429-6dup MANE Select	ENSP00000362299.4:n.1429-9_1429-6dup
ENST00000344849.4:c.1429-9_1429-6dup	ENSP00000341917.3:n.1429-9_1429-6dup
ENST00000373203.8:c.1429-9_1429-6dup	ENSP00000362299.4:n.1429-9_1429-6dup
ENST00000480266.5:c.883-9_883-6dup	ENSP00000479015.1:n.883-9_883-6dup
NM_000118.3:c.1429-9_1429-6dup , LRG_589t1:c.1429-9_1429-6dup	NP_000109.1:n.1429-9_1429-6dup
NM_001114753.2:c.1429-9_1429-6dup , LRG_589t2:c.1429-9_1429-6dup	NP_001108225.1:n.1429-9_1429-6dup
NM_001278138.1:c.883-9_883-6dup	NP_001265067.1:n.883-9_883-6dup
NR_136302.1:n.1451_1454dup
NM_001114753.3:c.1429-9_1429-6dup MANE Select	NP_001108225.1:n.1429-9_1429-6dup
NM_001278138.2:c.883-9_883-6dup	NP_001265067.1:n.883-9_883-6dup