Canonical Allele Identifier: CA2697547862

Gene: MPV17

Linked Data

• ClinVar Variation Id: 2719107
• ClinVar RCV Id: RCV003553471

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312656_27312681del , CM000664.2:g.27312656_27312681del	GRCh38
NC_000002.11:g.27535523_27535548del , CM000664.1:g.27535523_27535548del	GRCh37
NC_000002.10:g.27389027_27389052del	NCBI36
NG_008075.1:g.14884_14909del
NG_033055.1:g.583_608del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.278_279+24del
ENST00000233545.6:c.278_279+24del
ENST00000357186.10:c.110_111+24del
ENST00000380044.5:c.278_279+24del
ENST00000402310.5:c.278_279+24del
ENST00000402722.5:c.243_244+24del
ENST00000403262.6:c.278_279+24del
ENST00000405076.5:c.186+313_186+338del	ENSP00000385175.1:n.186+313_186+338del
ENST00000405983.5:c.323_324+24del
ENST00000415514.5:c.*79_*80+24del
ENST00000426513.6:c.243_244+24del
ENST00000428910.5:c.200_201+24del
ENST00000430991.5:c.208_209+24del
ENST00000475085.1:n.306_307+24del
ENST00000616446.1:n.255_256+24del
ENST00000616707.1:n.707_732del
ENST00000617583.4:n.304_305+24del
ENST00000621183.4:n.334_335+24del
ENST00000621470.4:n.294_295+24del
ENST00000622003.4:n.451_452+24del
NM_002437.4:c.278_279+24del
XM_005264326.2:c.278_279+24del
XM_005264327.2:c.119_120+24del
XM_006712021.2:c.230_231+24del
XM_005264326.4:c.278_279+24del
XM_006712021.3:c.230_231+24del
XM_017004150.1:c.260_261+24del
XM_017004151.1:c.230_231+24del
XM_017004152.1:c.119_120+24del
XM_024452913.1:c.230_231+24del
NM_002437.5:c.278_279+24del