Canonical Allele Identifier: CA1575671

Gene: MPV17

Linked Data

• dbSNP Id: rs753533146
• ExAC: 2:27535948 GATA / G
• gnomAD v2: 2-27535948-GATA-G
• gnomAD v3: 2-27313081-GATA-G
• gnomAD v4: 2-27313081-GATA-G
• MyVariant Identifiers: chr2:g.27535949_27535951del (hg19) ; chr2:g.27313082_27313084del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313084_27313086del , CM000664.2:g.27313084_27313086del	GRCh38
NC_000002.11:g.27535951_27535953del , CM000664.1:g.27535951_27535953del	GRCh37
NC_000002.10:g.27389455_27389457del	NCBI36
NG_008075.1:g.14481_14483del
NG_033055.1:g.180_182del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.96_98del MANE Select	ENSP00000369383.1:p.Ile33del
ENST00000233545.6:c.96_98del	ENSP00000233545.2:p.Ile33del
ENST00000357186.10:c.19-312_19-310del	ENSP00000349713.6:n.19-312_19-310del
ENST00000380044.5:c.96_98del	ENSP00000369383.1:p.Ile33del
ENST00000402310.5:c.96_98del	ENSP00000383955.1:p.Ile33del
ENST00000402722.5:c.71-10_71-8del	ENSP00000386000.1:n.71-10_71-8del
ENST00000403262.6:c.96_98del	ENSP00000385671.1:p.Ile33del
ENST00000405076.5:c.96_98del	ENSP00000385175.1:p.Ile33del
ENST00000405983.5:c.141_143del	ENSP00000384586.1:p.Ile48del
ENST00000415514.5:c.228-312_228-310del	ENSP00000388043.1:n.228-312_228-310del
ENST00000426513.6:c.71-10_71-8del	ENSP00000403824.2:n.71-10_71-8del
ENST00000428910.5:c.18_20del	ENSP00000405235.1:p.Ile7del
ENST00000430991.5:c.26_28del
ENST00000616446.1:n.73_75del
ENST00000616707.1:n.304_306del
ENST00000617583.4:n.122_124del
ENST00000621183.4:n.152_154del
ENST00000621470.4:n.122-10_122-8del
ENST00000622003.4:n.269_271del
NM_002437.4:c.96_98del	NP_002428.1:p.Ile33del
XM_005264326.2:c.96_98del	XP_005264383.1:p.Ile33del
XM_005264327.2:c.-54-10_-54-8del	XP_005264384.1:n.-54-10_-54-8del
XM_006712021.2:c.48_50del	XP_006712084.1:p.Ile17del
XM_005264326.4:c.96_98del	XP_005264383.1:p.Ile33del
XM_006712021.3:c.48_50del	XP_006712084.1:p.Ile17del
XM_017004150.1:c.78_80del	XP_016859639.1:p.Ile27del
XM_017004151.1:c.48_50del	XP_016859640.1:p.Ile17del
XM_017004152.1:c.-54-10_-54-8del	XP_016859641.1:n.-54-10_-54-8del
XM_024452913.1:c.48_50del	XP_024308681.1:p.Ile17del
NM_002437.5:c.96_98del MANE Select	NP_002428.1:p.Ile33del