Canonical Allele Identifier: CA342974
Gene: MPV17 HGNC NCBI

Linked Data

ClinVar Variation Id: 38350
ClinVar RCV Id: RCV000031906
dbSNP Id: rs267607262

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27312718_27312726del , CM000664.2:g.27312718_27312726del GRCh38
NC_000002.11:g.27535585_27535593del , CM000664.1:g.27535585_27535593del GRCh37
NC_000002.10:g.27389089_27389097del NCBI36
NG_008075.1:g.14840_14848del
NG_033055.1:g.539_547del

Transcript Alleles

HGVS Amino-acid change
ENST00000380044.6:c.234_242del MANE Select ENSP00000369383.1:p.Gly79_Thr81del
ENST00000233545.6:c.234_242del ENSP00000233545.2:p.Gly79_Thr81del
ENST00000357186.10:c.66_74del ENSP00000349713.6:p.Gly23_Thr25del
ENST00000380044.5:c.234_242del ENSP00000369383.1:p.Gly79_Thr81del
ENST00000402310.5:c.234_242del ENSP00000383955.1:p.Gly79_Thr81del
ENST00000402722.5:c.199_207del ENSP00000386000.1:p.Trp67_His69del
ENST00000403262.6:c.234_242del ENSP00000385671.1:p.Gly79_Thr81del
ENST00000405076.5:c.186+269_186+277del ENSP00000385175.1:n.186+269_186+277del
ENST00000405983.5:c.279_287del ENSP00000384586.1:p.Gly94_Thr96del
ENST00000415514.5:c.*35_*43del ENSP00000388043.1:n.*35_*43del
ENST00000426513.6:c.199_207del ENSP00000403824.2:p.Trp67_His69del
ENST00000428910.5:c.156_164del ENSP00000405235.1:p.Gly53_Thr55del
ENST00000430991.5:c.164_172del
ENST00000475085.1:n.262_270del
ENST00000616446.1:n.211_219del
ENST00000616707.1:n.663_671del
ENST00000617583.4:n.260_268del
ENST00000621183.4:n.290_298del
ENST00000621470.4:n.250_258del
ENST00000622003.4:n.407_415del
NM_002437.4:c.234_242del NP_002428.1:p.Gly79_Thr81del
XM_005264326.2:c.234_242del XP_005264383.1:p.Gly79_Thr81del
XM_005264327.2:c.75_83del XP_005264384.1:p.Gly26_Thr28del
XM_006712021.2:c.186_194del XP_006712084.1:p.Gly63_Thr65del
XM_005264326.4:c.234_242del XP_005264383.1:p.Gly79_Thr81del
XM_006712021.3:c.186_194del XP_006712084.1:p.Gly63_Thr65del
XM_017004150.1:c.216_224del XP_016859639.1:p.Gly73_Thr75del
XM_017004151.1:c.186_194del XP_016859640.1:p.Gly63_Thr65del
XM_017004152.1:c.75_83del XP_016859641.1:p.Gly26_Thr28del
XM_024452913.1:c.186_194del XP_024308681.1:p.Gly63_Thr65del
NM_002437.5:c.234_242del MANE Select NP_002428.1:p.Gly79_Thr81del