Canonical Allele Identifier: CA2573151157

Gene: MPI

Linked Data

• ClinVar Variation Id: 1370035
• ClinVar RCV Id: RCV001870915
• dbSNP Id: rs2141206722

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74896234del , CM000677.2:g.74896234del	GRCh38
NC_000015.9:g.75188575del , CM000677.1:g.75188575del	GRCh37
NC_000015.8:g.72975628del	NCBI36
NG_008921.1:g.11166del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352410.9:c.753del MANE Select	ENSP00000318318.6:p.Phe252LeufsTer6
ENST00000323744.10:c.570del	ENSP00000318192.6:p.Phe191LeufsTer6
ENST00000352410.8:c.753del	ENSP00000318318.6:p.Phe252LeufsTer6
ENST00000535694.5:c.603del	ENSP00000440447.1:p.Phe202LeufsTer6
ENST00000562606.5:c.693del	ENSP00000457020.1:p.Phe232LeufsTer6
ENST00000562800.5:c.256-1305del	ENSP00000457619.1:n.256-1305del
ENST00000563422.5:c.753del	ENSP00000457885.1:p.Phe252LeufsTer6
ENST00000563786.5:c.693del	ENSP00000455241.1:p.Phe232LeufsTer6
ENST00000564003.5:c.420del	ENSP00000454312.1:p.Phe141LeufsTer6
ENST00000566377.5:c.753del	ENSP00000455405.1:p.Phe252LeufsTer6
ENST00000566556.1:n.801del
ENST00000567177.1:c.531del	ENSP00000457013.1:p.Phe178LeufsTer6
ENST00000569931.5:c.693del	ENSP00000455161.1:p.Phe232LeufsTer6
NM_001289155.1:c.753del	NP_001276084.1:p.Phe252LeufsTer6
NM_001289156.1:c.603del	NP_001276085.1:p.Phe202LeufsTer6
NM_001289157.1:c.570del	NP_001276086.1:p.Phe191LeufsTer6
NM_002435.2:c.753del	NP_002426.1:p.Phe252LeufsTer6
XM_011521592.1:c.741del	XP_011519894.1:p.Phe248LeufsTer6
XM_011521593.1:c.693del	XP_011519895.1:p.Phe232LeufsTer6
NM_001330372.1:c.693del	NP_001317301.1:p.Phe232LeufsTer6
XM_017022208.1:c.693del	XP_016877697.1:p.Phe232LeufsTer6
XM_017022209.2:c.603del	XP_016877698.1:p.Phe202LeufsTer6
NM_002435.3:c.753del MANE Select	NP_002426.1:p.Phe252LeufsTer6
NM_001289155.2:c.753del	NP_001276084.1:p.Phe252LeufsTer6
NM_001289156.2:c.603del	NP_001276085.1:p.Phe202LeufsTer6
NM_001289157.2:c.570del	NP_001276086.1:p.Phe191LeufsTer6
NM_001330372.2:c.693del	NP_001317301.1:p.Phe232LeufsTer6