Canonical Allele Identifier: CA531764222

Gene: MPV17

Linked Data

• ClinVar Variation Id: 939232
• ClinVar RCV Id: RCV001208598
• dbSNP Id: rs1558599953
• gnomAD v2: 2-27535867-GC-G
• gnomAD v4: 2-27313000-GC-G
• MyVariant Identifiers: chr2:g.27535868del (hg19) ; chr2:g.27313001del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313002del , CM000664.2:g.27313002del	GRCh38
NC_000002.11:g.27535869del , CM000664.1:g.27535869del	GRCh37
NC_000002.10:g.27389373del	NCBI36
NG_008075.1:g.14564del
NG_033055.1:g.263del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.179del MANE Select	ENSP00000369383.1:p.Gly60AlafsTer7
ENST00000233545.6:c.179del	ENSP00000233545.2:p.Gly60AlafsTer7
ENST00000357186.10:c.19-229del	ENSP00000349713.6:n.19-229del
ENST00000380044.5:c.179del	ENSP00000369383.1:p.Gly60AlafsTer7
ENST00000402310.5:c.179del	ENSP00000383955.1:p.Gly60AlafsTer7
ENST00000402722.5:c.144del	ENSP00000386000.1:p.Trp48CysfsTer?
ENST00000403262.6:c.179del	ENSP00000385671.1:p.Gly60AlafsTer7
ENST00000405076.5:c.179del	ENSP00000385175.1:p.Gly60AlafsTer21
ENST00000405983.5:c.224del	ENSP00000384586.1:p.Gly75AlafsTer7
ENST00000415514.5:c.228-229del	ENSP00000388043.1:n.228-229del
ENST00000426513.6:c.144del	ENSP00000403824.2:p.Trp48CysfsTer?
ENST00000428910.5:c.101del	ENSP00000405235.1:p.Gly34AlafsTer7
ENST00000430991.5:c.109del
ENST00000616446.1:n.156del
ENST00000616707.1:n.387del
ENST00000617583.4:n.205del
ENST00000621183.4:n.235del
ENST00000621470.4:n.195del
ENST00000622003.4:n.352del
NM_002437.4:c.179del	NP_002428.1:p.Gly60AlafsTer7
XM_005264326.2:c.179del	XP_005264383.1:p.Gly60AlafsTer7
XM_005264327.2:c.20del	XP_005264384.1:p.Gly7AlafsTer7
XM_006712021.2:c.131del	XP_006712084.1:p.Gly44AlafsTer7
XM_005264326.4:c.179del	XP_005264383.1:p.Gly60AlafsTer7
XM_006712021.3:c.131del	XP_006712084.1:p.Gly44AlafsTer7
XM_017004150.1:c.161del	XP_016859639.1:p.Gly54AlafsTer7
XM_017004151.1:c.131del	XP_016859640.1:p.Gly44AlafsTer7
XM_017004152.1:c.20del	XP_016859641.1:p.Gly7AlafsTer7
XM_024452913.1:c.131del	XP_024308681.1:p.Gly44AlafsTer7
NM_002437.5:c.179del MANE Select	NP_002428.1:p.Gly60AlafsTer7