Canonical Allele Identifier: CA2586968865

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312562_27312564del , CM000664.2:g.27312562_27312564del	GRCh38
NC_000002.11:g.27535429_27535431del , CM000664.1:g.27535429_27535431del	GRCh37
NC_000002.10:g.27388933_27388935del	NCBI36
NG_008075.1:g.15004_15006del
NG_033055.1:g.703_705del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.308_310del MANE Select	ENSP00000369383.1:p.Cys103del
ENST00000233545.6:c.308_310del	ENSP00000233545.2:p.Cys103del
ENST00000357186.10:c.140_142del	ENSP00000349713.6:p.Cys47del
ENST00000380044.5:c.308_310del	ENSP00000369383.1:p.Cys103del
ENST00000402310.5:c.308_310del	ENSP00000383955.1:p.Cys103del
ENST00000402722.5:c.273_275del	ENSP00000386000.1:p.Leu92del
ENST00000403262.6:c.308_310del	ENSP00000385671.1:p.Cys103del
ENST00000405076.5:c.187-315_187-313del	ENSP00000385175.1:n.187-315_187-313del
ENST00000405983.5:c.353_355del	ENSP00000384586.1:p.Cys118del
ENST00000415514.5:c.*109_*111del	ENSP00000388043.1:n.*109_*111del
ENST00000426513.6:c.273_275del	ENSP00000403824.2:p.Leu92del
ENST00000428910.5:c.230_232del	ENSP00000405235.1:p.Cys77del
ENST00000430991.5:c.209+119_209+121del
ENST00000475085.1:n.336_338del
ENST00000616446.1:n.285_287del
ENST00000616707.1:n.827_829del
ENST00000617583.4:n.334_336del
ENST00000621183.4:n.364_366del
ENST00000621470.4:n.324_326del
ENST00000622003.4:n.481_483del
NM_002437.4:c.308_310del	NP_002428.1:p.Cys103del
XM_005264326.2:c.308_310del	XP_005264383.1:p.Cys103del
XM_005264327.2:c.149_151del	XP_005264384.1:p.Cys50del
XM_006712021.2:c.260_262del	XP_006712084.1:p.Cys87del
XM_005264326.4:c.308_310del	XP_005264383.1:p.Cys103del
XM_006712021.3:c.260_262del	XP_006712084.1:p.Cys87del
XM_017004150.1:c.290_292del	XP_016859639.1:p.Cys97del
XM_017004151.1:c.260_262del	XP_016859640.1:p.Cys87del
XM_017004152.1:c.149_151del	XP_016859641.1:p.Cys50del
XM_024452913.1:c.260_262del	XP_024308681.1:p.Cys87del
NM_002437.5:c.308_310del MANE Select	NP_002428.1:p.Cys103del