Canonical Allele Identifier: CA619413149

Gene: MPI

Linked Data

• ClinVar Variation Id: 2861192
• ClinVar RCV Id: RCV003631059
• dbSNP Id: rs1313637977
• gnomAD v2: 15-75188613-C-CT
• gnomAD v4: 15-74896272-C-CT
• MyVariant Identifiers: chr15:g.75188613_75188614insT (hg19) ; chr15:g.74896272_74896273insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74896273dup , CM000677.2:g.74896273dup	GRCh38
NC_000015.9:g.75188614dup , CM000677.1:g.75188614dup	GRCh37
NC_000015.8:g.72975667dup	NCBI36
NG_008921.1:g.11205dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352410.9:c.792dup MANE Select	ENSP00000318318.6:p.Gly265TrpfsTer?
ENST00000323744.10:c.609dup	ENSP00000318192.6:p.Gly204TrpfsTer?
ENST00000352410.8:c.792dup	ENSP00000318318.6:p.Gly265TrpfsTer?
ENST00000535694.5:c.642dup	ENSP00000440447.1:p.Gly215TrpfsTer?
ENST00000562606.5:c.732dup	ENSP00000457020.1:p.Gly245TrpfsTer19
ENST00000562800.5:c.256-1266dup	ENSP00000457619.1:n.256-1266dup
ENST00000563422.5:c.792dup	ENSP00000457885.1:p.Gly265TrpfsTer19
ENST00000563786.5:c.732dup	ENSP00000455241.1:p.Gly245TrpfsTer?
ENST00000564003.5:c.459dup	ENSP00000454312.1:p.Gly154TrpfsTer19
ENST00000566377.5:c.792dup	ENSP00000455405.1:p.Gly265TrpfsTer?
ENST00000566556.1:n.840dup
ENST00000567177.1:c.570dup	ENSP00000457013.1:p.Gly191TrpfsTer?
ENST00000569931.5:c.732dup	ENSP00000455161.1:p.Gly245TrpfsTer?
NM_001289155.1:c.792dup	NP_001276084.1:p.Gly265TrpfsTer?
NM_001289156.1:c.642dup	NP_001276085.1:p.Gly215TrpfsTer?
NM_001289157.1:c.609dup	NP_001276086.1:p.Gly204TrpfsTer?
NM_002435.2:c.792dup	NP_002426.1:p.Gly265TrpfsTer?
XM_011521592.1:c.780dup	XP_011519894.1:p.Gly261TrpfsTer?
XM_011521593.1:c.732dup	XP_011519895.1:p.Gly245TrpfsTer?
NM_001330372.1:c.732dup	NP_001317301.1:p.Gly245TrpfsTer?
XM_017022208.1:c.732dup	XP_016877697.1:p.Gly245TrpfsTer?
XM_017022209.2:c.642dup	XP_016877698.1:p.Gly215TrpfsTer?
NM_002435.3:c.792dup MANE Select	NP_002426.1:p.Gly265TrpfsTer?
NM_001289155.2:c.792dup	NP_001276084.1:p.Gly265TrpfsTer?
NM_001289156.2:c.642dup	NP_001276085.1:p.Gly215TrpfsTer?
NM_001289157.2:c.609dup	NP_001276086.1:p.Gly204TrpfsTer?
NM_001330372.2:c.732dup	NP_001317301.1:p.Gly245TrpfsTer?