Canonical Allele Identifier: CA2658326368

Gene: MPV17

Linked Data

• gnomAD v4: 2-27313034-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313039_27313040del , CM000664.2:g.27313039_27313040del	GRCh38
NC_000002.11:g.27535906_27535907del , CM000664.1:g.27535906_27535907del	GRCh37
NC_000002.10:g.27389410_27389411del	NCBI36
NG_008075.1:g.14529_14530del
NG_033055.1:g.228_229del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.144_145del MANE Select	ENSP00000369383.1:p.Gly49ProfsTer?
ENST00000233545.6:c.144_145del	ENSP00000233545.2:p.Gly49ProfsTer?
ENST00000357186.10:c.19-264_19-263del	ENSP00000349713.6:n.19-264_19-263del
ENST00000380044.5:c.144_145del	ENSP00000369383.1:p.Gly49ProfsTer?
ENST00000402310.5:c.144_145del	ENSP00000383955.1:p.Gly49ProfsTer?
ENST00000402722.5:c.109_110del	ENSP00000386000.1:p.Arg37AlafsTer4
ENST00000403262.6:c.144_145del	ENSP00000385671.1:p.Gly49ProfsTer?
ENST00000405076.5:c.144_145del	ENSP00000385175.1:p.Gly49ProfsTer17
ENST00000405983.5:c.189_190del	ENSP00000384586.1:p.Gly64ProfsTer?
ENST00000415514.5:c.228-264_228-263del	ENSP00000388043.1:n.228-264_228-263del
ENST00000426513.6:c.109_110del	ENSP00000403824.2:p.Arg37AlafsTer4
ENST00000428910.5:c.66_67del	ENSP00000405235.1:p.Gly23ProfsTer?
ENST00000430991.5:c.74_75del
ENST00000616446.1:n.121_122del
ENST00000616707.1:n.352_353del
ENST00000617583.4:n.170_171del
ENST00000621183.4:n.200_201del
ENST00000621470.4:n.160_161del
ENST00000622003.4:n.317_318del
NM_002437.4:c.144_145del	NP_002428.1:p.Gly49ProfsTer?
XM_005264326.2:c.144_145del	XP_005264383.1:p.Gly49ProfsTer?
XM_005264327.2:c.-16_-15del	XP_005264384.1:n.-16_-15del
XM_006712021.2:c.96_97del	XP_006712084.1:p.Gly33ProfsTer?
XM_005264326.4:c.144_145del	XP_005264383.1:p.Gly49ProfsTer?
XM_006712021.3:c.96_97del	XP_006712084.1:p.Gly33ProfsTer?
XM_017004150.1:c.126_127del	XP_016859639.1:p.Gly43ProfsTer?
XM_017004151.1:c.96_97del	XP_016859640.1:p.Gly33ProfsTer?
XM_017004152.1:c.-16_-15del	XP_016859641.1:n.-16_-15del
XM_024452913.1:c.96_97del	XP_024308681.1:p.Gly33ProfsTer?
NM_002437.5:c.144_145del MANE Select	NP_002428.1:p.Gly49ProfsTer?