Canonical Allele Identifier: CA1240217339

Gene: MPV17

Linked Data

• dbSNP Id: rs1679515450

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313028_27313054del , CM000664.2:g.27313028_27313054del	GRCh38
NC_000002.11:g.27535895_27535921del , CM000664.1:g.27535895_27535921del	GRCh37
NC_000002.10:g.27389399_27389425del	NCBI36
NG_008075.1:g.14515_14541del
NG_033055.1:g.214_240del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.130_156del MANE Select	ENSP00000369383.1:p.Gln44_Leu52del
ENST00000233545.6:c.130_156del	ENSP00000233545.2:p.Gln44_Leu52del
ENST00000357186.10:c.19-278_19-252del	ENSP00000349713.6:n.19-278_19-252del
ENST00000380044.5:c.130_156del	ENSP00000369383.1:p.Gln44_Leu52del
ENST00000402310.5:c.130_156del	ENSP00000383955.1:p.Gln44_Leu52del
ENST00000402722.5:c.95_121del	ENSP00000386000.1:p.Ala32_Ser40del
ENST00000403262.6:c.130_156del	ENSP00000385671.1:p.Gln44_Leu52del
ENST00000405076.5:c.130_156del	ENSP00000385175.1:p.Gln44_Leu52del
ENST00000405983.5:c.175_201del	ENSP00000384586.1:p.Gln59_Leu67del
ENST00000415514.5:c.228-278_228-252del	ENSP00000388043.1:n.228-278_228-252del
ENST00000426513.6:c.95_121del	ENSP00000403824.2:p.Ala32_Ser40del
ENST00000428910.5:c.52_78del	ENSP00000405235.1:p.Gln18_Leu26del
ENST00000430991.5:c.60_86del
ENST00000616446.1:n.107_133del
ENST00000616707.1:n.338_364del
ENST00000617583.4:n.156_182del
ENST00000621183.4:n.186_212del
ENST00000621470.4:n.146_172del
ENST00000622003.4:n.303_329del
NM_002437.4:c.130_156del	NP_002428.1:p.Gln44_Leu52del
XM_005264326.2:c.130_156del	XP_005264383.1:p.Gln44_Leu52del
XM_005264327.2:c.-30_-4del	XP_005264384.1:n.-30_-4del
XM_006712021.2:c.82_108del	XP_006712084.1:p.Gln28_Leu36del
XM_005264326.4:c.130_156del	XP_005264383.1:p.Gln44_Leu52del
XM_006712021.3:c.82_108del	XP_006712084.1:p.Gln28_Leu36del
XM_017004150.1:c.112_138del	XP_016859639.1:p.Gln38_Leu46del
XM_017004151.1:c.82_108del	XP_016859640.1:p.Gln28_Leu36del
XM_017004152.1:c.-30_-4del	XP_016859641.1:n.-30_-4del
XM_024452913.1:c.82_108del	XP_024308681.1:p.Gln28_Leu36del
NM_002437.5:c.130_156del MANE Select	NP_002428.1:p.Gln44_Leu52del