Canonical Allele Identifier: CA2062564244
Gene: TRPV4 HGNC NCBI

Linked Data

dbSNP Id: rs1890103002

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109792396_109792398del , CM000674.2:g.109792396_109792398del GRCh38
NC_000012.11:g.110230201_110230203del , CM000674.1:g.110230201_110230203del GRCh37
NC_000012.10:g.108714584_108714586del NCBI36
NG_017090.1:g.46012_46014del , LRG_372:g.46012_46014del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261740.7:c.1858_1860del MANE Select ENSP00000261740.2:p.Val620del
ENST00000418703.7:c.1858_1860del ENSP00000406191.2:p.Val620del
ENST00000674908.1:c.*945_*947del ENSP00000502012.1:n.*945_*947del
ENST00000675533.1:n.1889_1891del
ENST00000675670.1:c.1858_1860del ENSP00000502135.1:p.Val620del
ENST00000676376.1:n.1889_1891del
ENST00000261740.6:c.1858_1860del ENSP00000261740.2:p.Val620del
ENST00000418703.6:c.1858_1860del ENSP00000406191.2:p.Val620del
ENST00000536838.1:c.1756_1758del ENSP00000444336.1:p.Val586del
ENST00000537083.5:c.1678_1680del ENSP00000442738.1:p.Val560del
ENST00000538125.5:c.*241_*243del ENSP00000437449.1:n.*241_*243del
ENST00000541794.5:c.1717_1719del ENSP00000442167.1:p.Val573del
ENST00000544971.5:c.1537_1539del ENSP00000443611.1:p.Val513del
NM_001177428.1:c.1717_1719del NP_001170899.1:p.Val573del
NM_001177431.1:c.1756_1758del NP_001170902.1:p.Val586del
NM_001177433.1:c.1537_1539del NP_001170904.1:p.Val513del
NM_021625.4:c.1858_1860del , LRG_372t1:c.1858_1860del NP_067638.3:p.Val620del
NM_147204.2:c.1678_1680del NP_671737.1:p.Val560del
XM_005253918.1:c.1858_1860del XP_005253975.1:p.Val620del
XM_011538630.1:c.1858_1860del XP_011536932.1:p.Val620del
XM_011538631.1:c.1717_1719del XP_011536933.1:p.Val573del
XM_011538632.1:c.1678_1680del XP_011536934.1:p.Val560del
XM_011538633.1:c.1537_1539del XP_011536935.1:p.Val513del
XM_011538634.1:c.1858_1860del XP_011536936.1:p.Val620del
XM_011538635.1:c.2011_2013del XP_011536937.1:p.Val671del
XM_011538630.2:c.2011_2013del XP_011536932.2:p.Val671del
XM_011538631.2:c.1870_1872del XP_011536933.2:p.Val624del
XM_011538632.2:c.1831_1833del XP_011536934.2:p.Val611del
XM_011538633.2:c.1690_1692del XP_011536935.2:p.Val564del
XM_011538634.2:c.2011_2013del XP_011536936.2:p.Val671del
XM_011538635.2:c.2011_2013del XP_011536937.1:p.Val671del
XM_017019774.1:c.1858_1860del XP_016875263.1:p.Val620del
NM_021625.5:c.1858_1860del MANE Select NP_067638.3:p.Val620del