Canonical Allele Identifier: CA4187327
Community Standard Title: NM_002510.3(GPNMB):c.319_332del (p.Lys107TrpfsTer6)
Gene: GPNMB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23254264_23254277del , CM000669.2:g.23254264_23254277del GRCh38
NC_000007.13:g.23293883_23293896del , CM000669.1:g.23293883_23293896del GRCh37
NC_000007.12:g.23260408_23260421del NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_002510.3:c.319_332del MANE Select NP_002501.1:p.Lys107TrpfsTer6
ENST00000258733.9:c.319_332del MANE Select ENSP00000258733.5:p.Lys107TrpfsTer6
NM_001005340.1:c.319_332del NP_001005340.1:p.Lys107TrpfsTer6
NM_001005340.2:c.319_332del NP_001005340.1:p.Lys107TrpfsTer6
NM_002510.2:c.319_332del NP_002501.1:p.Lys107TrpfsTer6
ENST00000258733.8:c.319_332del ENSP00000258733.4:p.Lys107TrpfsTer6
ENST00000381990.6:c.319_332del ENSP00000371420.2:p.Lys107TrpfsTer6
ENST00000409458.3:c.319_332del ENSP00000386476.3:p.Lys107TrpfsTer6
ENST00000465673.5:n.497_510del
ENST00000487890.5:n.510_523del
ENST00000492512.1:n.399_412del
ENST00000492858.6:n.521_534del
ENST00000647578.1:c.319_332del ENSP00000497362.1:p.Lys107TrpfsTer6
XM_005249578.1:c.319_332del XP_005249635.1:p.Lys107TrpfsTer6
XM_005249578.3:c.319_332del XP_005249635.1:p.Lys107TrpfsTer6
XM_017011676.2:c.319_332del XP_016867165.1:p.Lys107TrpfsTer6
XM_017011677.2:c.319_332del XP_016867166.1:p.Lys107TrpfsTer6
XM_017011678.2:c.319_332del XP_016867167.1:p.Lys107TrpfsTer6