Canonical Allele Identifier: CA619413158

Gene: MPI

Linked Data

• ClinVar Variation Id: 1366385
• ClinVar RCV Id: RCV001944655
• dbSNP Id: rs1567268668
• gnomAD v2: 15-75188641-C-CG
• gnomAD v4: 15-74896300-C-CG
• MyVariant Identifiers: chr15:g.75188641_75188642insG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74896301dup , CM000677.2:g.74896301dup	GRCh38
NC_000015.9:g.75188642dup , CM000677.1:g.75188642dup	GRCh37
NC_000015.8:g.72975695dup	NCBI36
NG_008921.1:g.11233dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352410.9:c.820dup MANE Select	ENSP00000318318.6:p.Val274GlyfsTer?
ENST00000323744.10:c.637dup	ENSP00000318192.6:p.Val213GlyfsTer?
ENST00000352410.8:c.820dup	ENSP00000318318.6:p.Val274GlyfsTer?
ENST00000535694.5:c.670dup	ENSP00000440447.1:p.Val224GlyfsTer?
ENST00000562606.5:c.760dup	ENSP00000457020.1:p.Val254GlyfsTer10
ENST00000562800.5:c.256-1238dup	ENSP00000457619.1:n.256-1238dup
ENST00000563422.5:c.820dup	ENSP00000457885.1:p.Val274GlyfsTer10
ENST00000563786.5:c.760dup	ENSP00000455241.1:p.Val254GlyfsTer?
ENST00000564003.5:c.487dup	ENSP00000454312.1:p.Val163GlyfsTer10
ENST00000566377.5:c.820dup	ENSP00000455405.1:p.Val274GlyfsTer29
ENST00000566556.1:n.868dup
ENST00000567177.1:c.598dup	ENSP00000457013.1:p.Val200GlyfsTer29
ENST00000569931.5:c.760dup	ENSP00000455161.1:p.Val254GlyfsTer?
NM_001289155.1:c.820dup	NP_001276084.1:p.Val274GlyfsTer29
NM_001289156.1:c.670dup	NP_001276085.1:p.Val224GlyfsTer?
NM_001289157.1:c.637dup	NP_001276086.1:p.Val213GlyfsTer?
NM_002435.2:c.820dup	NP_002426.1:p.Val274GlyfsTer?
XM_011521592.1:c.808dup	XP_011519894.1:p.Val270GlyfsTer?
XM_011521593.1:c.760dup	XP_011519895.1:p.Val254GlyfsTer?
NM_001330372.1:c.760dup	NP_001317301.1:p.Val254GlyfsTer?
XM_017022208.1:c.760dup	XP_016877697.1:p.Val254GlyfsTer29
XM_017022209.2:c.670dup	XP_016877698.1:p.Val224GlyfsTer29
NM_002435.3:c.820dup MANE Select	NP_002426.1:p.Val274GlyfsTer?
NM_001289155.2:c.820dup	NP_001276084.1:p.Val274GlyfsTer29
NM_001289156.2:c.670dup	NP_001276085.1:p.Val224GlyfsTer?
NM_001289157.2:c.637dup	NP_001276086.1:p.Val213GlyfsTer?
NM_001330372.2:c.760dup	NP_001317301.1:p.Val254GlyfsTer?