Canonical Allele Identifier: CA1240217356
Gene: MPV17 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27313054_27313055delinsAC , CM000664.2:g.27313054_27313055delinsAC GRCh38
NC_000002.11:g.27535921_27535922delinsAC , CM000664.1:g.27535921_27535922delinsAC GRCh37
NC_000002.10:g.27389425_27389426delinsAC NCBI36
NG_008075.1:g.14510_14511delinsGT
NG_033055.1:g.209_210delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000380044.6:c.125_126delinsGT MANE Select ENSP00000369383.1:p.Gly42=
ENST00000233545.6:c.125_126delinsGT ENSP00000233545.2:p.Gly42=
ENST00000357186.10:c.19-283_19-282delinsGT ENSP00000349713.6:n.19-283_19-282delinsGT
ENST00000380044.5:c.125_126delinsGT ENSP00000369383.1:p.Gly42=
ENST00000402310.5:c.125_126delinsGT ENSP00000383955.1:p.Gly42=
ENST00000402722.5:c.90_91delinsGT ENSP00000386000.1:p.Gly30=
ENST00000403262.6:c.125_126delinsGT ENSP00000385671.1:p.Gly42=
ENST00000405076.5:c.125_126delinsGT ENSP00000385175.1:p.Gly42=
ENST00000405983.5:c.170_171delinsGT ENSP00000384586.1:p.Gly57=
ENST00000415514.5:c.228-283_228-282delinsGT ENSP00000388043.1:n.228-283_228-282delinsGT
ENST00000426513.6:c.90_91delinsGT ENSP00000403824.2:p.Gly30=
ENST00000428910.5:c.47_48delinsGT ENSP00000405235.1:p.Gly16=
ENST00000430991.5:c.55_56delinsGT
ENST00000616446.1:n.102_103delinsGT
ENST00000616707.1:n.333_334delinsGT
ENST00000617583.4:n.151_152delinsGT
ENST00000621183.4:n.181_182delinsGT
ENST00000621470.4:n.141_142delinsGT
ENST00000622003.4:n.298_299delinsGT
NM_002437.4:c.125_126delinsGT NP_002428.1:p.Gly42=
XM_005264326.2:c.125_126delinsGT XP_005264383.1:p.Gly42=
XM_005264327.2:c.-35_-34delinsGT XP_005264384.1:n.-35_-34delinsGT
XM_006712021.2:c.77_78delinsGT XP_006712084.1:p.Gly26=
XM_005264326.4:c.125_126delinsGT XP_005264383.1:p.Gly42=
XM_006712021.3:c.77_78delinsGT XP_006712084.1:p.Gly26=
XM_017004150.1:c.107_108delinsGT XP_016859639.1:p.Gly36=
XM_017004151.1:c.77_78delinsGT XP_016859640.1:p.Gly26=
XM_017004152.1:c.-35_-34delinsGT XP_016859641.1:n.-35_-34delinsGT
XM_024452913.1:c.77_78delinsGT XP_024308681.1:p.Gly26=
NM_002437.5:c.125_126delinsGT MANE Select NP_002428.1:p.Gly42=