Canonical Allele Identifier: CA1240217349

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313044_27313045delinsGT , CM000664.2:g.27313044_27313045delinsGT	GRCh38
NC_000002.11:g.27535911_27535912delinsGT , CM000664.1:g.27535911_27535912delinsGT	GRCh37
NC_000002.10:g.27389415_27389416delinsGT	NCBI36
NG_008075.1:g.14520_14521delinsAC
NG_033055.1:g.219_220delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.135_136delinsAC MANE Select	ENSP00000369383.1:p.Glu45=
ENST00000233545.6:c.135_136delinsAC	ENSP00000233545.2:p.Glu45=
ENST00000357186.10:c.19-273_19-272delinsAC	ENSP00000349713.6:n.19-273_19-272delinsAC
ENST00000380044.5:c.135_136delinsAC	ENSP00000369383.1:p.Glu45=
ENST00000402310.5:c.135_136delinsAC	ENSP00000383955.1:p.Glu45=
ENST00000402722.5:c.100_101delinsAC	ENSP00000386000.1:p.Thr34=
ENST00000403262.6:c.135_136delinsAC	ENSP00000385671.1:p.Glu45=
ENST00000405076.5:c.135_136delinsAC	ENSP00000385175.1:p.Glu45=
ENST00000405983.5:c.180_181delinsAC	ENSP00000384586.1:p.Glu60=
ENST00000415514.5:c.228-273_228-272delinsAC	ENSP00000388043.1:n.228-273_228-272delinsAC
ENST00000426513.6:c.100_101delinsAC	ENSP00000403824.2:p.Thr34=
ENST00000428910.5:c.57_58delinsAC	ENSP00000405235.1:p.Glu19=
ENST00000430991.5:c.65_66delinsAC
ENST00000616446.1:n.112_113delinsAC
ENST00000616707.1:n.343_344delinsAC
ENST00000617583.4:n.161_162delinsAC
ENST00000621183.4:n.191_192delinsAC
ENST00000621470.4:n.151_152delinsAC
ENST00000622003.4:n.308_309delinsAC
NM_002437.4:c.135_136delinsAC	NP_002428.1:p.Glu45=
XM_005264326.2:c.135_136delinsAC	XP_005264383.1:p.Glu45=
XM_005264327.2:c.-25_-24delinsAC	XP_005264384.1:n.-25_-24delinsAC
XM_006712021.2:c.87_88delinsAC	XP_006712084.1:p.Glu29=
XM_005264326.4:c.135_136delinsAC	XP_005264383.1:p.Glu45=
XM_006712021.3:c.87_88delinsAC	XP_006712084.1:p.Glu29=
XM_017004150.1:c.117_118delinsAC	XP_016859639.1:p.Glu39=
XM_017004151.1:c.87_88delinsAC	XP_016859640.1:p.Glu29=
XM_017004152.1:c.-25_-24delinsAC	XP_016859641.1:n.-25_-24delinsAC
XM_024452913.1:c.87_88delinsAC	XP_024308681.1:p.Glu29=
NM_002437.5:c.135_136delinsAC MANE Select	NP_002428.1:p.Glu45=