Canonical Allele Identifier: CA1200122543
Gene: FDPS HGNC NCBI
RUSC1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1649724653

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155318262dup , CM000663.2:g.155318262dup GRCh38
NC_000001.10:g.155288053dup , CM000663.1:g.155288053dup GRCh37
NC_000001.9:g.153554677dup NCBI36
NG_045218.1:g.14515dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000368356.9:c.655dup (FDPS) MANE Select ENSP00000357340.4:p.Tyr219LeufsTer16
ENST00000356657.10:c.655dup (FDPS) ENSP00000349078.6:p.Tyr219LeufsTer16
ENST00000368356.8:c.655dup (FDPS) ENSP00000357340.4:p.Tyr219LeufsTer16
ENST00000447866.5:c.457dup (FDPS) ENSP00000391755.1:p.Tyr153LeufsTer16
ENST00000461507.5:n.621dup (FDPS)
ENST00000467076.5:c.457dup (FDPS) ENSP00000480142.1:p.Tyr153LeufsTer16
ENST00000468479.5:n.669dup (FDPS)
ENST00000470171.5:n.567dup (FDPS)
ENST00000471117.5:n.419dup (FDPS)
ENST00000474345.5:c.*332dup (FDPS) ENSP00000478032.1:n.*332dup
ENST00000477057.5:n.550dup (FDPS)
ENST00000489003.5:n.551dup (FDPS)
ENST00000491013.5:c.655dup (FDPS) ENSP00000479557.1:p.Tyr219LeufsTer16
ENST00000492244.5:n.75dup (FDPS)
ENST00000492887.5:n.88dup (FDPS)
ENST00000495308.5:n.552dup (FDPS)
ENST00000611010.4:c.142dup (FDPS) ENSP00000483188.1:p.Tyr48LeufsTer16
ENST00000612683.1:c.457dup (FDPS) ENSP00000478235.1:p.Tyr153LeufsTer16
NM_001135821.1:c.655dup (FDPS) NP_001129293.1:p.Tyr219LeufsTer16
NM_001135822.1:c.457dup (FDPS) NP_001129294.1:p.Tyr153LeufsTer16
NM_001242824.1:c.457dup (FDPS) NP_001229753.1:p.Tyr153LeufsTer16
NM_001242825.1:c.142dup (FDPS) NP_001229754.1:p.Tyr48LeufsTer16
NM_002004.3:c.655dup (FDPS) NP_001995.1:p.Tyr219LeufsTer16
XM_005244962.1:c.457dup (FDPS) XP_005245019.1:p.Tyr153LeufsTer16
XM_005244963.1:c.457dup (FDPS) XP_005245020.1:p.Tyr153LeufsTer16
NR_145424.1:n.627+4dup (RUSC1-AS1)
NR_145425.1:n.352+4dup (RUSC1-AS1)
XM_024454066.1:c.655dup (FDPS) XP_024309834.1:p.Tyr219LeufsTer16
XM_024454070.1:c.655dup (FDPS) XP_024309838.1:p.Tyr219LeufsTer16
XM_024454071.1:c.457dup (FDPS) XP_024309839.1:p.Tyr153LeufsTer16
XM_024454072.1:c.457dup (FDPS) XP_024309840.1:p.Tyr153LeufsTer16
XM_024454073.1:c.457dup (FDPS) XP_024309841.1:p.Tyr153LeufsTer16
XM_024454074.1:c.457dup (FDPS) XP_024309842.1:p.Tyr153LeufsTer16
XM_024454076.1:c.142dup (FDPS) XP_024309844.1:p.Tyr48LeufsTer16
NM_001135821.2:c.655dup (FDPS) NP_001129293.1:p.Tyr219LeufsTer16
NM_001135822.2:c.457dup (FDPS) NP_001129294.1:p.Tyr153LeufsTer16
NM_001242824.2:c.457dup (FDPS) NP_001229753.1:p.Tyr153LeufsTer16
NM_002004.4:c.655dup (FDPS) MANE Select NP_001995.1:p.Tyr219LeufsTer16
NM_001242825.2:c.142dup (FDPS) NP_001229754.1:p.Tyr48LeufsTer16
NM_001378424.1:c.457dup (FDPS) NP_001365353.1:p.Tyr153LeufsTer16
NM_001378425.1:c.457dup (FDPS) NP_001365354.1:p.Tyr153LeufsTer16