Canonical Allele Identifier: CA1240217338

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313023_27313050delinsTCAGAGTCCGGCCTCTCTGGTGTTCCTG , CM000664.2:g.27313023_27313050delinsTCAGAGTCCGGCCTCTCTGGTGTTCCTG	GRCh38
NC_000002.11:g.27535890_27535917delinsTCAGAGTCCGGCCTCTCTGGTGTTCCTG , CM000664.1:g.27535890_27535917delinsTCAGAGTCCGGCCTCTCTGGTGTTCCTG	GRCh37
NC_000002.10:g.27389394_27389421delinsTCAGAGTCCGGCCTCTCTGGTGTTCCTG	NCBI36
NG_008075.1:g.14515_14542delinsCAGGAACACCAGAGAGGCCGGACTCTGA
NG_033055.1:g.214_241delinsCAGGAACACCAGAGAGGCCGGACTCTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.130_157delinsCAGGAACACCAGAGAGGCCGGACTCTGA MANE Select	ENSP00000369383.1:p.Gln44=
ENST00000233545.6:c.130_157delinsCAGGAACACCAGAGAGGCCGGACTCTGA	ENSP00000233545.2:p.Gln44=
ENST00000357186.10:c.19-278_19-251delinsCAGGAACACCAGAGAGGCCGGACTCTGA	ENSP00000349713.6:n.19-278_19-251delinsCAGGAACACCAGAGAGGCCGGA...
ENST00000380044.5:c.130_157delinsCAGGAACACCAGAGAGGCCGGACTCTGA	ENSP00000369383.1:p.Gln44=
ENST00000402310.5:c.130_157delinsCAGGAACACCAGAGAGGCCGGACTCTGA	ENSP00000383955.1:p.Gln44=
ENST00000402722.5:c.95_122delinsCAGGAACACCAGAGAGGCCGGACTCTGA	ENSP00000386000.1:p.Ala32=
ENST00000403262.6:c.130_157delinsCAGGAACACCAGAGAGGCCGGACTCTGA	ENSP00000385671.1:p.Gln44=
ENST00000405076.5:c.130_157delinsCAGGAACACCAGAGAGGCCGGACTCTGA	ENSP00000385175.1:p.Gln44=
ENST00000405983.5:c.175_202delinsCAGGAACACCAGAGAGGCCGGACTCTGA	ENSP00000384586.1:p.Gln59=
ENST00000415514.5:c.228-278_228-251delinsCAGGAACACCAGAGAGGCCGGACTCTGA	ENSP00000388043.1:n.228-278_228-251delinsCAGGAACACCAGAGAGGCCG...
ENST00000426513.6:c.95_122delinsCAGGAACACCAGAGAGGCCGGACTCTGA	ENSP00000403824.2:p.Ala32=
ENST00000428910.5:c.52_79delinsCAGGAACACCAGAGAGGCCGGACTCTGA	ENSP00000405235.1:p.Gln18=
ENST00000430991.5:c.60_87delinsCAGGAACACCAGAGAGGCCGGACTCTGA
ENST00000616446.1:n.107_134delinsCAGGAACACCAGAGAGGCCGGACTCTGA
ENST00000616707.1:n.338_365delinsCAGGAACACCAGAGAGGCCGGACTCTGA
ENST00000617583.4:n.156_183delinsCAGGAACACCAGAGAGGCCGGACTCTGA
ENST00000621183.4:n.186_213delinsCAGGAACACCAGAGAGGCCGGACTCTGA
ENST00000621470.4:n.146_173delinsCAGGAACACCAGAGAGGCCGGACTCTGA
ENST00000622003.4:n.303_330delinsCAGGAACACCAGAGAGGCCGGACTCTGA
NM_002437.4:c.130_157delinsCAGGAACACCAGAGAGGCCGGACTCTGA	NP_002428.1:p.Gln44=
XM_005264326.2:c.130_157delinsCAGGAACACCAGAGAGGCCGGACTCTGA	XP_005264383.1:p.Gln44=
XM_005264327.2:c.-30_-3delinsCAGGAACACCAGAGAGGCCGGACTCTGA	XP_005264384.1:n.-30_-3delinsCAGGAACACCAGAGAGGCCGGACTCTGA
XM_006712021.2:c.82_109delinsCAGGAACACCAGAGAGGCCGGACTCTGA	XP_006712084.1:p.Gln28=
XM_005264326.4:c.130_157delinsCAGGAACACCAGAGAGGCCGGACTCTGA	XP_005264383.1:p.Gln44=
XM_006712021.3:c.82_109delinsCAGGAACACCAGAGAGGCCGGACTCTGA	XP_006712084.1:p.Gln28=
XM_017004150.1:c.112_139delinsCAGGAACACCAGAGAGGCCGGACTCTGA	XP_016859639.1:p.Gln38=
XM_017004151.1:c.82_109delinsCAGGAACACCAGAGAGGCCGGACTCTGA	XP_016859640.1:p.Gln28=
XM_017004152.1:c.-30_-3delinsCAGGAACACCAGAGAGGCCGGACTCTGA	XP_016859641.1:n.-30_-3delinsCAGGAACACCAGAGAGGCCGGACTCTGA
XM_024452913.1:c.82_109delinsCAGGAACACCAGAGAGGCCGGACTCTGA	XP_024308681.1:p.Gln28=
NM_002437.5:c.130_157delinsCAGGAACACCAGAGAGGCCGGACTCTGA MANE Select	NP_002428.1:p.Gln44=