Canonical Allele Identifier: CA2695197320
Gene: MPI HGNC NCBI

Linked Data

ClinVar Variation Id: 2676670
ClinVar RCV Id: RCV003470182

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896299delinsTC , CM000677.2:g.74896299delinsTC GRCh38
NC_000015.9:g.75188640delinsTC , CM000677.1:g.75188640delinsTC GRCh37
NC_000015.8:g.72975693delinsTC NCBI36
NG_008921.1:g.11231delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.818delinsTC MANE Select ENSP00000318318.6:p.Asn273IlefsTer?
ENST00000323744.10:c.635delinsTC ENSP00000318192.6:p.Asn212IlefsTer?
ENST00000352410.8:c.818delinsTC ENSP00000318318.6:p.Asn273IlefsTer?
ENST00000535694.5:c.668delinsTC ENSP00000440447.1:p.Asn223IlefsTer?
ENST00000562606.5:c.758delinsTC ENSP00000457020.1:p.Asn253IlefsTer11
ENST00000562800.5:c.256-1240delinsTC ENSP00000457619.1:n.256-1240delinsTC
ENST00000563422.5:c.818delinsTC ENSP00000457885.1:p.Asn273IlefsTer11
ENST00000563786.5:c.758delinsTC ENSP00000455241.1:p.Asn253IlefsTer?
ENST00000564003.5:c.485delinsTC ENSP00000454312.1:p.Asn162IlefsTer11
ENST00000566377.5:c.818delinsTC ENSP00000455405.1:p.Asn273IlefsTer30
ENST00000566556.1:n.866delinsTC
ENST00000567177.1:c.596delinsTC ENSP00000457013.1:p.Asn199IlefsTer30
ENST00000569931.5:c.758delinsTC ENSP00000455161.1:p.Asn253IlefsTer?
NM_001289155.1:c.818delinsTC NP_001276084.1:p.Asn273IlefsTer30
NM_001289156.1:c.668delinsTC NP_001276085.1:p.Asn223IlefsTer?
NM_001289157.1:c.635delinsTC NP_001276086.1:p.Asn212IlefsTer?
NM_002435.2:c.818delinsTC NP_002426.1:p.Asn273IlefsTer?
XM_011521592.1:c.806delinsTC XP_011519894.1:p.Asn269IlefsTer?
XM_011521593.1:c.758delinsTC XP_011519895.1:p.Asn253IlefsTer?
NM_001330372.1:c.758delinsTC NP_001317301.1:p.Asn253IlefsTer?
XM_017022208.1:c.758delinsTC XP_016877697.1:p.Asn253IlefsTer30
XM_017022209.2:c.668delinsTC XP_016877698.1:p.Asn223IlefsTer30
NM_002435.3:c.818delinsTC MANE Select NP_002426.1:p.Asn273IlefsTer?
NM_001289155.2:c.818delinsTC NP_001276084.1:p.Asn273IlefsTer30
NM_001289156.2:c.668delinsTC NP_001276085.1:p.Asn223IlefsTer?
NM_001289157.2:c.635delinsTC NP_001276086.1:p.Asn212IlefsTer?
NM_001330372.2:c.758delinsTC NP_001317301.1:p.Asn253IlefsTer?