Canonical Allele Identifier: CA639829801

Gene: TSPO

Linked Data

• dbSNP Id: rs1269818076
• gnomAD v2: 22-43558849-C-CCACTA
• gnomAD v4: 22-43162843-C-CCACTA
• MyVariant Identifiers: chr22:g.43558849_43558850insCACTA (hg19) ; chr22:g.43162843_43162844insCACTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43162845_43162849dup , CM000684.2:g.43162845_43162849dup	GRCh38
NC_000022.10:g.43558851_43558855dup , CM000684.1:g.43558851_43558855dup	GRCh37
NC_000022.9:g.41888795_41888799dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000337554.8:c.364_368dup MANE Select	ENSP00000338004.3:p.Val124LeufsTer8
ENST00000329563.8:c.364_368dup	ENSP00000328973.4:p.Val124LeufsTer8
ENST00000337554.7:c.364_368dup	ENSP00000338004.3:p.Val124LeufsTer8
ENST00000396265.4:c.364_368dup	ENSP00000379563.4:p.Val124LeufsTer8
ENST00000583777.5:c.52_56dup	ENSP00000463495.1:p.Val20LeufsTer8
NM_000714.5:c.364_368dup	NP_000705.2:p.Val124LeufsTer8
NM_001256530.1:c.364_368dup	NP_001243459.1:p.Val124LeufsTer8
NM_001256531.1:c.364_368dup	NP_001243460.1:p.Val124LeufsTer8
NR_046308.1:n.273_277dup
NM_000714.6:c.364_368dup MANE Select	NP_000705.2:p.Val124LeufsTer8
NR_046308.2:n.228_232dup