Canonical Allele Identifier: CA2697547866

Gene: MPV17

Linked Data

• ClinVar Variation Id: 2710314
• ClinVar RCV Id: RCV003550373

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313044dup , CM000664.2:g.27313044dup	GRCh38
NC_000002.11:g.27535911dup , CM000664.1:g.27535911dup	GRCh37
NC_000002.10:g.27389415dup	NCBI36
NG_008075.1:g.14521dup
NG_033055.1:g.220dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.136dup MANE Select	ENSP00000369383.1:p.His46ProfsTer?
ENST00000233545.6:c.136dup	ENSP00000233545.2:p.His46ProfsTer?
ENST00000357186.10:c.19-272dup	ENSP00000349713.6:n.19-272dup
ENST00000380044.5:c.136dup	ENSP00000369383.1:p.His46ProfsTer?
ENST00000402310.5:c.136dup	ENSP00000383955.1:p.His46ProfsTer?
ENST00000402722.5:c.101dup	ENSP00000386000.1:p.Pro35ThrfsTer7
ENST00000403262.6:c.136dup	ENSP00000385671.1:p.His46ProfsTer?
ENST00000405076.5:c.136dup	ENSP00000385175.1:p.His46ProfsTer21
ENST00000405983.5:c.181dup	ENSP00000384586.1:p.His61ProfsTer?
ENST00000415514.5:c.228-272dup	ENSP00000388043.1:n.228-272dup
ENST00000426513.6:c.101dup	ENSP00000403824.2:p.Pro35ThrfsTer7
ENST00000428910.5:c.58dup	ENSP00000405235.1:p.His20ProfsTer?
ENST00000430991.5:c.66dup
ENST00000616446.1:n.113dup
ENST00000616707.1:n.344dup
ENST00000617583.4:n.162dup
ENST00000621183.4:n.192dup
ENST00000621470.4:n.152dup
ENST00000622003.4:n.309dup
NM_002437.4:c.136dup	NP_002428.1:p.His46ProfsTer?
XM_005264326.2:c.136dup	XP_005264383.1:p.His46ProfsTer?
XM_005264327.2:c.-24dup	XP_005264384.1:n.-24dup
XM_006712021.2:c.88dup	XP_006712084.1:p.His30ProfsTer?
XM_005264326.4:c.136dup	XP_005264383.1:p.His46ProfsTer?
XM_006712021.3:c.88dup	XP_006712084.1:p.His30ProfsTer?
XM_017004150.1:c.118dup	XP_016859639.1:p.His40ProfsTer?
XM_017004151.1:c.88dup	XP_016859640.1:p.His30ProfsTer?
XM_017004152.1:c.-24dup	XP_016859641.1:n.-24dup
XM_024452913.1:c.88dup	XP_024308681.1:p.His30ProfsTer?
NM_002437.5:c.136dup MANE Select	NP_002428.1:p.His46ProfsTer?