Canonical Allele Identifier: CA916082521

Gene: MPV17

Linked Data

• ClinVar Variation Id: 841778
• ClinVar RCV Id: RCV001044073
• dbSNP Id: rs1679514298

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313015_27313027del , CM000664.2:g.27313015_27313027del	GRCh38
NC_000002.11:g.27535882_27535894del , CM000664.1:g.27535882_27535894del	GRCh37
NC_000002.10:g.27389386_27389398del	NCBI36
NG_008075.1:g.14540_14552del
NG_033055.1:g.239_251del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.155_167del MANE Select	ENSP00000369383.1:p.Leu52ProfsTer11
ENST00000233545.6:c.155_167del	ENSP00000233545.2:p.Leu52ProfsTer11
ENST00000357186.10:c.19-253_19-241del	ENSP00000349713.6:n.19-253_19-241del
ENST00000380044.5:c.155_167del	ENSP00000369383.1:p.Leu52ProfsTer11
ENST00000402310.5:c.155_167del	ENSP00000383955.1:p.Leu52ProfsTer11
ENST00000402722.5:c.120_132del	ENSP00000386000.1:p.Asp41LeufsTer?
ENST00000403262.6:c.155_167del	ENSP00000385671.1:p.Leu52ProfsTer11
ENST00000405076.5:c.155_167del	ENSP00000385175.1:p.Leu52ProfsTer25
ENST00000405983.5:c.200_212del	ENSP00000384586.1:p.Leu67ProfsTer11
ENST00000415514.5:c.228-253_228-241del	ENSP00000388043.1:n.228-253_228-241del
ENST00000426513.6:c.120_132del	ENSP00000403824.2:p.Asp41LeufsTer?
ENST00000428910.5:c.77_89del	ENSP00000405235.1:p.Leu26ProfsTer11
ENST00000430991.5:c.85_97del
ENST00000616446.1:n.132_144del
ENST00000616707.1:n.363_375del
ENST00000617583.4:n.181_193del
ENST00000621183.4:n.211_223del
ENST00000621470.4:n.171_183del
ENST00000622003.4:n.328_340del
NM_002437.4:c.155_167del	NP_002428.1:p.Leu52ProfsTer11
XM_005264326.2:c.155_167del	XP_005264383.1:p.Leu52ProfsTer11
XM_005264327.2:c.-5_8del
XM_006712021.2:c.107_119del	XP_006712084.1:p.Leu36ProfsTer11
XM_005264326.4:c.155_167del	XP_005264383.1:p.Leu52ProfsTer11
XM_006712021.3:c.107_119del	XP_006712084.1:p.Leu36ProfsTer11
XM_017004150.1:c.137_149del	XP_016859639.1:p.Leu46ProfsTer11
XM_017004151.1:c.107_119del	XP_016859640.1:p.Leu36ProfsTer11
XM_017004152.1:c.-5_8del
XM_024452913.1:c.107_119del	XP_024308681.1:p.Leu36ProfsTer11
NM_002437.5:c.155_167del MANE Select	NP_002428.1:p.Leu52ProfsTer11