Canonical Allele Identifier: CA342978
Gene: MPV17 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 38353
dbSNP Id: rs267607264

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27312691_27312693del , CM000664.2:g.27312691_27312693del GRCh38
NC_000002.11:g.27535558_27535560del , CM000664.1:g.27535558_27535560del GRCh37
NC_000002.10:g.27389062_27389064del NCBI36
NG_008075.1:g.14877_14879del
NG_033055.1:g.576_578del

Transcript Alleles

HGVS Amino-acid change
NM_002437.4:c.271_273del VV NP_002428.1:p.Leu91del
XM_005264326.2:c.271_273del XP_005264383.1:p.Leu91del
XM_005264327.2:c.112_114del XP_005264384.1:p.Leu38del
XM_006712021.2:c.223_225del XP_006712084.1:p.Leu75del
XM_005264326.4:c.271_273del
XM_006712021.3:c.223_225del
XM_017004150.1:c.253_255del XP_016859639.1:p.Leu85del
XM_017004151.1:c.223_225del XP_016859640.1:p.Leu75del
XM_017004152.1:c.112_114del XP_016859641.1:p.Leu38del
XM_024452913.1:c.223_225del XP_024308681.1:p.Leu75del
NM_002437.5:c.271_273del VV MANE Preferred
ENST00000233545.6:c.271_273del ENSP00000233545.2:p.Leu91del
ENST00000357186.10:c.103_105del ENSP00000349713.6:p.Leu35del
ENST00000380044.5:c.271_273del ENSP00000369383.1:p.Leu91del
ENST00000402310.5:c.271_273del ENSP00000383955.1:p.Leu91del
ENST00000402722.5:c.236_238del ENSP00000386000.1:p.Val79del
ENST00000403262.6:c.271_273del ENSP00000385671.1:p.Leu91del
ENST00000405076.5:c.186+306_186+308del ENSP00000385175.1:p.=
ENST00000405983.5:c.316_318del ENSP00000384586.1:p.Leu106del
ENST00000415514.5:c.*72_*74del ENSP00000388043.1:p.=
ENST00000426513.6:c.236_238del ENSP00000403824.2:p.Val79del
ENST00000428910.5:c.193_195del ENSP00000405235.1:p.Leu65del
ENST00000430991.5:n.201_203del
ENST00000475085.1:n.299_301del
ENST00000616446.1:n.248_250del
ENST00000616707.1:n.700_702del
ENST00000617583.4:n.297_299del
ENST00000621183.4:n.327_329del
ENST00000621470.4:n.287_289del
ENST00000622003.4:n.444_446del