Canonical Allele Identifier: CA5252964

Gene: ENG

Linked Data

• dbSNP Id: rs531617359
• ExAC: 9:130587298 C / CT
• gnomAD v2: 9-130587298-C-CT
• gnomAD v3: 9-127825019-C-CT
• gnomAD v4: 9-127825019-C-CT
• MyVariant Identifiers: chr9:g.130587298_130587299insT (hg19) ; chr9:g.127825019_127825020insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825020dup , CM000671.2:g.127825020dup	GRCh38
NC_000009.11:g.130587299dup , CM000671.1:g.130587299dup	GRCh37
NC_000009.10:g.129627120dup	NCBI36
NG_009551.1:g.34749dup , LRG_589:g.34749dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.271-46dup	ENSP00000479015.1:n.271-46dup
ENST00000373203.9:c.817-46dup MANE Select	ENSP00000362299.4:n.817-46dup
ENST00000344849.4:c.817-46dup	ENSP00000341917.3:n.817-46dup
ENST00000373203.8:c.817-46dup	ENSP00000362299.4:n.817-46dup
ENST00000480266.5:c.271-46dup	ENSP00000479015.1:n.271-46dup
NM_000118.3:c.817-46dup , LRG_589t1:c.817-46dup	NP_000109.1:n.817-46dup
NM_001114753.2:c.817-46dup , LRG_589t2:c.817-46dup	NP_001108225.1:n.817-46dup
NM_001278138.1:c.271-46dup	NP_001265067.1:n.271-46dup
NM_001114753.3:c.817-46dup MANE Select	NP_001108225.1:n.817-46dup
NM_001278138.2:c.271-46dup	NP_001265067.1:n.271-46dup