Canonical Allele Identifier: CA1240217346

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313032_27313058delinsGGCCTCTCTGGTGTTCCTGCAGACCCC , CM000664.2:g.27313032_27313058delinsGGCCTCTCTGGTGTTCCTGCAGACCCC	GRCh38
NC_000002.11:g.27535899_27535925delinsGGCCTCTCTGGTGTTCCTGCAGACCCC , CM000664.1:g.27535899_27535925delinsGGCCTCTCTGGTGTTCCTGCAGACCCC	GRCh37
NC_000002.10:g.27389403_27389429delinsGGCCTCTCTGGTGTTCCTGCAGACCCC	NCBI36
NG_008075.1:g.14507_14533delinsGGGGTCTGCAGGAACACCAGAGAGGCC
NG_033055.1:g.206_232delinsGGGGTCTGCAGGAACACCAGAGAGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.122_148delinsGGGGTCTGCAGGAACACCAGAGAGGCC MANE Select	ENSP00000369383.1:p.Arg41=
ENST00000233545.6:c.122_148delinsGGGGTCTGCAGGAACACCAGAGAGGCC	ENSP00000233545.2:p.Arg41=
ENST00000357186.10:c.19-286_19-260delinsGGGGTCTGCAGGAACACCAGAGAGGCC	ENSP00000349713.6:n.19-286_19-260delinsGGGGTCTGCAGGAACACCAGAG...
ENST00000380044.5:c.122_148delinsGGGGTCTGCAGGAACACCAGAGAGGCC	ENSP00000369383.1:p.Arg41=
ENST00000402310.5:c.122_148delinsGGGGTCTGCAGGAACACCAGAGAGGCC	ENSP00000383955.1:p.Arg41=
ENST00000402722.5:c.87_113delinsGGGGTCTGCAGGAACACCAGAGAGGCC	ENSP00000386000.1:p.Ala29=
ENST00000403262.6:c.122_148delinsGGGGTCTGCAGGAACACCAGAGAGGCC	ENSP00000385671.1:p.Arg41=
ENST00000405076.5:c.122_148delinsGGGGTCTGCAGGAACACCAGAGAGGCC	ENSP00000385175.1:p.Arg41=
ENST00000405983.5:c.167_193delinsGGGGTCTGCAGGAACACCAGAGAGGCC	ENSP00000384586.1:p.Arg56=
ENST00000415514.5:c.228-286_228-260delinsGGGGTCTGCAGGAACACCAGAGAGGCC	ENSP00000388043.1:n.228-286_228-260delinsGGGGTCTGCAGGAACACCAG...
ENST00000426513.6:c.87_113delinsGGGGTCTGCAGGAACACCAGAGAGGCC	ENSP00000403824.2:p.Ala29=
ENST00000428910.5:c.44_70delinsGGGGTCTGCAGGAACACCAGAGAGGCC	ENSP00000405235.1:p.Arg15=
ENST00000430991.5:c.52_78delinsGGGGTCTGCAGGAACACCAGAGAGGCC
ENST00000616446.1:n.99_125delinsGGGGTCTGCAGGAACACCAGAGAGGCC
ENST00000616707.1:n.330_356delinsGGGGTCTGCAGGAACACCAGAGAGGCC
ENST00000617583.4:n.148_174delinsGGGGTCTGCAGGAACACCAGAGAGGCC
ENST00000621183.4:n.178_204delinsGGGGTCTGCAGGAACACCAGAGAGGCC
ENST00000621470.4:n.138_164delinsGGGGTCTGCAGGAACACCAGAGAGGCC
ENST00000622003.4:n.295_321delinsGGGGTCTGCAGGAACACCAGAGAGGCC
NM_002437.4:c.122_148delinsGGGGTCTGCAGGAACACCAGAGAGGCC	NP_002428.1:p.Arg41=
XM_005264326.2:c.122_148delinsGGGGTCTGCAGGAACACCAGAGAGGCC	XP_005264383.1:p.Arg41=
XM_005264327.2:c.-38_-12delinsGGGGTCTGCAGGAACACCAGAGAGGCC	XP_005264384.1:n.-38_-12delinsGGGGTCTGCAGGAACACCAGAGAGGCC
XM_006712021.2:c.74_100delinsGGGGTCTGCAGGAACACCAGAGAGGCC	XP_006712084.1:p.Arg25=
XM_005264326.4:c.122_148delinsGGGGTCTGCAGGAACACCAGAGAGGCC	XP_005264383.1:p.Arg41=
XM_006712021.3:c.74_100delinsGGGGTCTGCAGGAACACCAGAGAGGCC	XP_006712084.1:p.Arg25=
XM_017004150.1:c.104_130delinsGGGGTCTGCAGGAACACCAGAGAGGCC	XP_016859639.1:p.Arg35=
XM_017004151.1:c.74_100delinsGGGGTCTGCAGGAACACCAGAGAGGCC	XP_016859640.1:p.Arg25=
XM_017004152.1:c.-38_-12delinsGGGGTCTGCAGGAACACCAGAGAGGCC	XP_016859641.1:n.-38_-12delinsGGGGTCTGCAGGAACACCAGAGAGGCC
XM_024452913.1:c.74_100delinsGGGGTCTGCAGGAACACCAGAGAGGCC	XP_024308681.1:p.Arg25=
NM_002437.5:c.122_148delinsGGGGTCTGCAGGAACACCAGAGAGGCC MANE Select	NP_002428.1:p.Arg41=