Canonical Allele Identifier: CA352141
Gene: VMP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 222959
ClinVar RCV Id: RCV000208550
dbSNP Id: rs869025245

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.59738864_59738865del , CM000679.2:g.59738864_59738865del GRCh38
NC_000017.10:g.57816225_57816226del , CM000679.1:g.57816225_57816226del GRCh37
NC_000017.9:g.55171007_55171008del NCBI36
NG_051107.1:g.36400_36401del

Transcript Alleles

HGVS Amino-acid Change
ENST00000585847.6:c.*12_*13del ENSP00000465947.1:n.*12_*13del
ENST00000586245.6:c.*60_*61del ENSP00000466579.1:n.*60_*61del
ENST00000587259.6:c.331_332del ENSP00000465397.2:p.Leu111PhefsTer?
ENST00000589823.7:c.331_332del ENSP00000466198.3:p.Leu111PhefsTer?
ENST00000590850.2:c.331_332del ENSP00000518473.1:p.Leu111PhefsTer?
ENST00000591315.6:c.331_332del ENSP00000466511.2:p.Leu111PhefsTer?
ENST00000591877.2:c.331_332del ENSP00000467350.2:p.Leu111PhefsTer?
ENST00000593168.6:c.212+3391_212+3392del ENSP00000465972.1:n.212+3391_212+3392del
ENST00000710770.1:c.331_332del ENSP00000518474.1:p.Leu111PhefsTer?
ENST00000262291.9:c.331_332del MANE Select ENSP00000262291.3:p.Leu111PhefsTer?
ENST00000262291.8:c.331_332del ENSP00000262291.3:p.Leu111PhefsTer?
ENST00000585847.5:c.*12_*13del ENSP00000465947.1:n.*12_*13del
ENST00000586245.5:c.*60_*61del ENSP00000466579.1:n.*60_*61del
ENST00000587945.1:c.-246_-245del ENSP00000466413.1:n.-246_-245del
ENST00000589823.6:c.331_332del ENSP00000466198.2:p.Leu111PhefsTer?
ENST00000591315.5:c.331_332del ENSP00000466511.1:p.Leu111PhefsTer?
ENST00000592619.5:c.136+3391_136+3392del
ENST00000593168.5:c.212+3391_212+3392del ENSP00000465972.1:n.212+3391_212+3392del
NM_030938.3:c.331_332del NP_112200.2:p.Leu111PhefsTer?
NM_001329394.1:c.331_332del NP_001316323.1:p.Leu111PhefsTer?
NM_001329395.1:c.331_332del NP_001316324.1:p.Leu111PhefsTer?
NM_001329396.1:c.303+1321_303+1322del NP_001316325.1:n.303+1321_303+1322del
NM_001329397.1:c.331_332del NP_001316326.1:p.Leu111PhefsTer?
NM_001329398.1:c.40_41del NP_001316327.1:p.Leu14PhefsTer?
NM_001329399.1:c.40_41del NP_001316328.1:p.Leu14PhefsTer?
NM_001329400.1:c.12+3391_12+3392del NP_001316329.1:n.12+3391_12+3392del
NM_001329401.1:c.40_41del NP_001316330.1:p.Leu14PhefsTer?
NM_001329402.1:c.-246_-245del NP_001316331.1:n.-246_-245del
NM_030938.4:c.331_332del NP_112200.2:p.Leu111PhefsTer?
NM_030938.5:c.331_332del MANE Select NP_112200.2:p.Leu111PhefsTer?
NM_001329394.2:c.331_332del NP_001316323.1:p.Leu111PhefsTer?
NM_001329395.2:c.331_332del NP_001316324.1:p.Leu111PhefsTer?
NM_001329396.2:c.303+1321_303+1322del NP_001316325.1:n.303+1321_303+1322del
NM_001329397.2:c.331_332del NP_001316326.1:p.Leu111PhefsTer?
NM_001329398.2:c.40_41del NP_001316327.1:p.Leu14PhefsTer?
NM_001329399.2:c.40_41del NP_001316328.1:p.Leu14PhefsTer?
NM_001329400.2:c.12+3391_12+3392del NP_001316329.1:n.12+3391_12+3392del
NM_001329401.2:c.40_41del NP_001316330.1:p.Leu14PhefsTer?
NM_001329402.2:c.-246_-245del NP_001316331.1:n.-246_-245del