Canonical Allele Identifier: CA2658326369

Gene: MPV17

Linked Data

• gnomAD v4: 2-27313060-C-CCT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313064_27313065dup , CM000664.2:g.27313064_27313065dup	GRCh38
NC_000002.11:g.27535931_27535932dup , CM000664.1:g.27535931_27535932dup	GRCh37
NC_000002.10:g.27389435_27389436dup	NCBI36
NG_008075.1:g.14503_14504dup
NG_033055.1:g.202_203dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.118_119dup MANE Select	ENSP00000369383.1:p.Arg41GlyfsTer13
ENST00000233545.6:c.118_119dup	ENSP00000233545.2:p.Arg41GlyfsTer13
ENST00000357186.10:c.19-290_19-289dup	ENSP00000349713.6:n.19-290_19-289dup
ENST00000380044.5:c.118_119dup	ENSP00000369383.1:p.Arg41GlyfsTer13
ENST00000402310.5:c.118_119dup	ENSP00000383955.1:p.Arg41GlyfsTer13
ENST00000402722.5:c.83_84dup	ENSP00000386000.1:p.Ala29ArgfsTer?
ENST00000403262.6:c.118_119dup	ENSP00000385671.1:p.Arg41GlyfsTer13
ENST00000405076.5:c.118_119dup	ENSP00000385175.1:p.Arg41GlyfsTer13
ENST00000405983.5:c.163_164dup	ENSP00000384586.1:p.Arg56GlyfsTer13
ENST00000415514.5:c.228-290_228-289dup	ENSP00000388043.1:n.228-290_228-289dup
ENST00000426513.6:c.83_84dup	ENSP00000403824.2:p.Ala29ArgfsTer?
ENST00000428910.5:c.40_41dup	ENSP00000405235.1:p.Arg15GlyfsTer13
ENST00000430991.5:c.48_49dup
ENST00000616446.1:n.95_96dup
ENST00000616707.1:n.326_327dup
ENST00000617583.4:n.144_145dup
ENST00000621183.4:n.174_175dup
ENST00000621470.4:n.134_135dup
ENST00000622003.4:n.291_292dup
NM_002437.4:c.118_119dup	NP_002428.1:p.Arg41GlyfsTer13
XM_005264326.2:c.118_119dup	XP_005264383.1:p.Arg41GlyfsTer13
XM_005264327.2:c.-42_-41dup	XP_005264384.1:n.-42_-41dup
XM_006712021.2:c.70_71dup	XP_006712084.1:p.Arg25GlyfsTer13
XM_005264326.4:c.118_119dup	XP_005264383.1:p.Arg41GlyfsTer13
XM_006712021.3:c.70_71dup	XP_006712084.1:p.Arg25GlyfsTer13
XM_017004150.1:c.100_101dup	XP_016859639.1:p.Arg35GlyfsTer13
XM_017004151.1:c.70_71dup	XP_016859640.1:p.Arg25GlyfsTer13
XM_017004152.1:c.-42_-41dup	XP_016859641.1:n.-42_-41dup
XM_024452913.1:c.70_71dup	XP_024308681.1:p.Arg25GlyfsTer13
NM_002437.5:c.118_119dup MANE Select	NP_002428.1:p.Arg41GlyfsTer13