Canonical Allele Identifier: CA658656313
Gene: TRPV4 HGNC NCBI

Linked Data

dbSNP Id: rs1057520305

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109783754_109783757del , CM000674.2:g.109783754_109783757del GRCh38
NC_000012.11:g.110221559_110221562del , CM000674.1:g.110221559_110221562del GRCh37
NC_000012.10:g.108705942_108705945del NCBI36
NG_017090.1:g.54652_54655del , LRG_372:g.54652_54655del

Transcript Alleles

HGVS Amino-acid change
ENST00000261740.7:c.2481_2484del MANE Select ENSP00000261740.2:p.Arg828TrpfsTer4
ENST00000418703.7:c.2481_2484del ENSP00000406191.2:p.Arg828TrpfsTer4
ENST00000674908.1:c.*1568_*1571del ENSP00000502012.1:n.*1568_*1571del
ENST00000675670.1:c.2481_2484del ENSP00000502135.1:p.Arg828TrpfsTer4
ENST00000261740.6:c.2481_2484del ENSP00000261740.2:p.Arg828TrpfsTer4
ENST00000418703.6:c.2481_2484del ENSP00000406191.2:p.Arg828TrpfsTer4
ENST00000536838.1:c.2379_2382del ENSP00000444336.1:p.Arg794TrpfsTer4
ENST00000537083.5:c.2301_2304del ENSP00000442738.1:p.Arg768TrpfsTer4
ENST00000538125.5:c.*864_*867del ENSP00000437449.1:n.*864_*867del
ENST00000541794.5:c.2340_2343del ENSP00000442167.1:p.Arg781TrpfsTer4
ENST00000544971.5:c.2160_2163del ENSP00000443611.1:p.Arg721TrpfsTer4
NM_001177428.1:c.2340_2343del NP_001170899.1:p.Arg781TrpfsTer4
NM_001177431.1:c.2379_2382del NP_001170902.1:p.Arg794TrpfsTer4
NM_001177433.1:c.2160_2163del NP_001170904.1:p.Arg721TrpfsTer4
NM_021625.4:c.2481_2484del , LRG_372t1:c.2481_2484del NP_067638.3:p.Arg828TrpfsTer4
NM_147204.2:c.2301_2304del NP_671737.1:p.Arg768TrpfsTer4
XM_005253918.1:c.2481_2484del XP_005253975.1:p.Arg828TrpfsTer4
XM_011538630.1:c.2481_2484del XP_011536932.1:p.Arg828TrpfsTer4
XM_011538631.1:c.2340_2343del XP_011536933.1:p.Arg781TrpfsTer4
XM_011538632.1:c.2301_2304del XP_011536934.1:p.Arg768TrpfsTer4
XM_011538633.1:c.2160_2163del XP_011536935.1:p.Arg721TrpfsTer4
XM_011538630.2:c.2634_2637del XP_011536932.2:p.Arg879TrpfsTer4
XM_011538631.2:c.2493_2496del XP_011536933.2:p.Arg832TrpfsTer4
XM_011538632.2:c.2454_2457del XP_011536934.2:p.Arg819TrpfsTer4
XM_011538633.2:c.2313_2316del XP_011536935.2:p.Arg772TrpfsTer4
XM_017019774.1:c.2481_2484del XP_016875263.1:p.Arg828TrpfsTer4
NM_021625.5:c.2481_2484del MANE Select NP_067638.3:p.Arg828TrpfsTer4