Canonical Allele Identifier: CA200312877

Gene: ENG

Linked Data

• dbSNP Id: rs945441761
• gnomAD v3: 9-127824722-C-CA
• gnomAD v4: 9-127824722-C-CA
• MyVariant Identifiers: chr9:g.130587001_130587002insA (hg19) ; chr9:g.127824722_127824723insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824723dup , CM000671.2:g.127824723dup	GRCh38
NC_000009.11:g.130587002dup , CM000671.1:g.130587002dup	GRCh37
NC_000009.10:g.129626823dup	NCBI36
NG_009551.1:g.35046dup , LRG_589:g.35046dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.445+77dup	ENSP00000479015.1:n.445+77dup
ENST00000373203.9:c.991+77dup MANE Select	ENSP00000362299.4:n.991+77dup
ENST00000344849.4:c.991+77dup	ENSP00000341917.3:n.991+77dup
ENST00000373203.8:c.991+77dup	ENSP00000362299.4:n.991+77dup
ENST00000480266.5:c.445+77dup	ENSP00000479015.1:n.445+77dup
NM_000118.3:c.991+77dup , LRG_589t1:c.991+77dup	NP_000109.1:n.991+77dup
NM_001114753.2:c.991+77dup , LRG_589t2:c.991+77dup	NP_001108225.1:n.991+77dup
NM_001278138.1:c.445+77dup	NP_001265067.1:n.445+77dup
NM_001114753.3:c.991+77dup MANE Select	NP_001108225.1:n.991+77dup
NM_001278138.2:c.445+77dup	NP_001265067.1:n.445+77dup