Canonical Allele Identifier: CA2697547864
Gene: MPV17 HGNC NCBI

Linked Data

ClinVar Variation Id: 2759967
ClinVar RCV Id: RCV003571935

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27312685_27312689del , CM000664.2:g.27312685_27312689del GRCh38
NC_000002.11:g.27535552_27535556del , CM000664.1:g.27535552_27535556del GRCh37
NC_000002.10:g.27389056_27389060del NCBI36
NG_008075.1:g.14876_14880del
NG_033055.1:g.575_579del

Transcript Alleles

HGVS Amino-acid change
ENST00000380044.6:c.270_274del MANE Select ENSP00000369383.1:p.Leu91SerfsTer20
ENST00000233545.6:c.270_274del ENSP00000233545.2:p.Leu91SerfsTer20
ENST00000357186.10:c.102_106del ENSP00000349713.6:p.Leu35SerfsTer20
ENST00000380044.5:c.270_274del ENSP00000369383.1:p.Leu91SerfsTer20
ENST00000402310.5:c.270_274del ENSP00000383955.1:p.Leu91SerfsTer20
ENST00000402722.5:c.235_239del ENSP00000386000.1:p.Val79IlefsTer10
ENST00000403262.6:c.270_274del ENSP00000385671.1:p.Leu91SerfsTer20
ENST00000405076.5:c.186+305_186+309del ENSP00000385175.1:n.186+305_186+309del
ENST00000405983.5:c.315_319del ENSP00000384586.1:p.Leu106SerfsTer20
ENST00000415514.5:c.*71_*75del ENSP00000388043.1:n.*71_*75del
ENST00000426513.6:c.235_239del ENSP00000403824.2:p.Val79IlefsTer10
ENST00000428910.5:c.192_196del ENSP00000405235.1:p.Leu65SerfsTer20
ENST00000430991.5:c.200_204del
ENST00000475085.1:n.298_302del
ENST00000616446.1:n.247_251del
ENST00000616707.1:n.699_703del
ENST00000617583.4:n.296_300del
ENST00000621183.4:n.326_330del
ENST00000621470.4:n.286_290del
ENST00000622003.4:n.443_447del
NM_002437.4:c.270_274del NP_002428.1:p.Leu91SerfsTer20
XM_005264326.2:c.270_274del XP_005264383.1:p.Leu91SerfsTer20
XM_005264327.2:c.111_115del XP_005264384.1:p.Leu38SerfsTer20
XM_006712021.2:c.222_226del XP_006712084.1:p.Leu75SerfsTer20
XM_005264326.4:c.270_274del XP_005264383.1:p.Leu91SerfsTer20
XM_006712021.3:c.222_226del XP_006712084.1:p.Leu75SerfsTer20
XM_017004150.1:c.252_256del XP_016859639.1:p.Leu85SerfsTer20
XM_017004151.1:c.222_226del XP_016859640.1:p.Leu75SerfsTer20
XM_017004152.1:c.111_115del XP_016859641.1:p.Leu38SerfsTer20
XM_024452913.1:c.222_226del XP_024308681.1:p.Leu75SerfsTer20
NM_002437.5:c.270_274del MANE Select NP_002428.1:p.Leu91SerfsTer20