Canonical Allele Identifier: CA619413159

Gene: MPI

Linked Data

• ClinVar Variation Id: 2900537
• ClinVar RCV Id: RCV003629691
• dbSNP Id: rs1567268682
• gnomAD v2: 15-75188651-GCC-G
• gnomAD v4: 15-74896310-GCC-G
• MyVariant Identifiers: chr15:g.75188652_75188653del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74896311_74896312del , CM000677.2:g.74896311_74896312del	GRCh38
NC_000015.9:g.75188652_75188653del , CM000677.1:g.75188652_75188653del	GRCh37
NC_000015.8:g.72975705_72975706del	NCBI36
NG_008921.1:g.11243_11244del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352410.9:c.830_831del MANE Select	ENSP00000318318.6:p.Ala277ValfsTer27
ENST00000323744.10:c.647_648del	ENSP00000318192.6:p.Ala216ValfsTer27
ENST00000352410.8:c.830_831del	ENSP00000318318.6:p.Ala277ValfsTer27
ENST00000535694.5:c.680_681del	ENSP00000440447.1:p.Ala227ValfsTer27
ENST00000562606.5:c.770_771del	ENSP00000457020.1:p.Ala257ValfsTer6
ENST00000562800.5:c.256-1228_256-1227del	ENSP00000457619.1:n.256-1228_256-1227del
ENST00000563422.5:c.830_831del	ENSP00000457885.1:p.Ala277ValfsTer6
ENST00000563786.5:c.770_771del	ENSP00000455241.1:p.Ala257ValfsTer27
ENST00000564003.5:c.497_498del	ENSP00000454312.1:p.Ala166ValfsTer6
ENST00000566377.5:c.830_831del	ENSP00000455405.1:p.Ala277ValfsTer25
ENST00000566556.1:n.878_879del
ENST00000567177.1:c.608_609del	ENSP00000457013.1:p.Ala203ValfsTer25
ENST00000569931.5:c.770_771del	ENSP00000455161.1:p.Ala257ValfsTer27
NM_001289155.1:c.830_831del	NP_001276084.1:p.Ala277ValfsTer25
NM_001289156.1:c.680_681del	NP_001276085.1:p.Ala227ValfsTer27
NM_001289157.1:c.647_648del	NP_001276086.1:p.Ala216ValfsTer27
NM_002435.2:c.830_831del	NP_002426.1:p.Ala277ValfsTer27
XM_011521592.1:c.818_819del	XP_011519894.1:p.Ala273ValfsTer27
XM_011521593.1:c.770_771del	XP_011519895.1:p.Ala257ValfsTer27
NM_001330372.1:c.770_771del	NP_001317301.1:p.Ala257ValfsTer27
XM_017022208.1:c.770_771del	XP_016877697.1:p.Ala257ValfsTer25
XM_017022209.2:c.680_681del	XP_016877698.1:p.Ala227ValfsTer25
NM_002435.3:c.830_831del MANE Select	NP_002426.1:p.Ala277ValfsTer27
NM_001289155.2:c.830_831del	NP_001276084.1:p.Ala277ValfsTer25
NM_001289156.2:c.680_681del	NP_001276085.1:p.Ala227ValfsTer27
NM_001289157.2:c.647_648del	NP_001276086.1:p.Ala216ValfsTer27
NM_001330372.2:c.770_771del	NP_001317301.1:p.Ala257ValfsTer27