Canonical Allele Identifier: CA1240217038

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312404_27312405delinsAC , CM000664.2:g.27312404_27312405delinsAC	GRCh38
NC_000002.11:g.27535272_27535273delinsAC , CM000664.1:g.27535272_27535273delinsAC	GRCh37
NC_000002.10:g.27388776_27388777delinsAC	NCBI36
NG_008075.1:g.15159_15160delinsGT
NG_033055.1:g.858_859delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.375+89_375+90delinsGT MANE Select	ENSP00000369383.1:n.375+89_375+90delinsGT
ENST00000233545.6:c.375+89_375+90delinsGT	ENSP00000233545.2:n.375+89_375+90delinsGT
ENST00000357186.10:c.207+89_207+90delinsGT	ENSP00000349713.6:n.207+89_207+90delinsGT
ENST00000380044.5:c.375+89_375+90delinsGT	ENSP00000369383.1:n.375+89_375+90delinsGT
ENST00000402310.5:c.375+89_375+90delinsGT	ENSP00000383955.1:n.375+89_375+90delinsGT
ENST00000402722.5:c.*40+89_*40+90delinsGT	ENSP00000386000.1:n.*40+89_*40+90delinsGT
ENST00000403262.6:c.375+89_375+90delinsGT	ENSP00000385671.1:n.375+89_375+90delinsGT
ENST00000405076.5:c.187-159_187-158delinsGT	ENSP00000385175.1:n.187-159_187-158delinsGT
ENST00000405983.5:c.420+89_420+90delinsGT	ENSP00000384586.1:n.420+89_420+90delinsGT
ENST00000415514.5:c.*176+89_*176+90delinsGT	ENSP00000388043.1:n.*176+89_*176+90delinsGT
ENST00000426513.6:c.*40+89_*40+90delinsGT	ENSP00000403824.2:n.*40+89_*40+90delinsGT
ENST00000428910.5:c.297+89_297+90delinsGT	ENSP00000405235.1:n.297+89_297+90delinsGT
ENST00000430991.5:c.210-159_210-158delinsGT
ENST00000475085.1:n.403+89_403+90delinsGT
ENST00000616446.1:n.441_442delinsGT
ENST00000616707.1:n.983_984delinsGT
ENST00000617583.4:n.490_491delinsGT
ENST00000620797.4:n.48+1_48+2delinsGT
ENST00000621183.4:n.520_521delinsGT
ENST00000621470.4:n.480_481delinsGT
ENST00000622003.4:n.637_638delinsGT
NM_002437.4:c.375+89_375+90delinsGT	NP_002428.1:n.375+89_375+90delinsGT
XM_005264326.2:c.375+89_375+90delinsGT	XP_005264383.1:n.375+89_375+90delinsGT
XM_005264327.2:c.216+89_216+90delinsGT	XP_005264384.1:n.216+89_216+90delinsGT
XM_006712021.2:c.327+89_327+90delinsGT	XP_006712084.1:n.327+89_327+90delinsGT
XM_005264326.4:c.375+89_375+90delinsGT	XP_005264383.1:n.375+89_375+90delinsGT
XM_006712021.3:c.327+89_327+90delinsGT	XP_006712084.1:n.327+89_327+90delinsGT
XM_017004150.1:c.357+89_357+90delinsGT	XP_016859639.1:n.357+89_357+90delinsGT
XM_017004151.1:c.327+89_327+90delinsGT	XP_016859640.1:n.327+89_327+90delinsGT
XM_017004152.1:c.216+89_216+90delinsGT	XP_016859641.1:n.216+89_216+90delinsGT
XM_024452913.1:c.327+89_327+90delinsGT	XP_024308681.1:n.327+89_327+90delinsGT
NM_002437.5:c.375+89_375+90delinsGT MANE Select	NP_002428.1:n.375+89_375+90delinsGT