Canonical Allele Identifier: CA658797952
Community Standard Title: NM_021625.5(TRPV4):c.2557_2586del (p.Cys853_Arg862del)
Gene: TRPV4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109783659_109783688del , CM000674.2:g.109783659_109783688del GRCh38
NC_000012.11:g.110221464_110221493del , CM000674.1:g.110221464_110221493del GRCh37
NC_000012.10:g.108705847_108705876del NCBI36
NG_017090.1:g.54728_54757del , LRG_372:g.54728_54757del

Transcript Alleles

HGVS Amino-acid Change
NM_021625.5:c.2557_2586del MANE Select NP_067638.3:p.Cys853_Arg862del
ENST00000261740.7:c.2557_2586del MANE Select ENSP00000261740.2:p.Cys853_Arg862del
NM_001177428.1:c.2416_2445del NP_001170899.1:p.Cys806_Arg815del
NM_001177431.1:c.2455_2484del NP_001170902.1:p.Cys819_Arg828del
NM_001177433.1:c.2236_2265del NP_001170904.1:p.Cys746_Arg755del
NM_021625.4:c.2557_2586del , LRG_372t1:c.2557_2586del NP_067638.3:p.Cys853_Arg862del
NM_147204.2:c.2377_2406del NP_671737.1:p.Cys793_Arg802del
ENST00000261740.6:c.2557_2586del ENSP00000261740.2:p.Cys853_Arg862del
ENST00000418703.6:c.2557_2586del ENSP00000406191.2:p.Cys853_Arg862del
ENST00000418703.7:c.2557_2586del ENSP00000406191.2:p.Cys853_Arg862del
ENST00000536838.1:c.2455_2484del ENSP00000444336.1:p.Cys819_Arg828del
ENST00000537083.5:c.2377_2406del ENSP00000442738.1:p.Cys793_Arg802del
ENST00000538125.5:c.*940_*969del ENSP00000437449.1:n.*940_*969del
ENST00000541794.5:c.2416_2445del ENSP00000442167.1:p.Cys806_Arg815del
ENST00000544971.5:c.2236_2265del ENSP00000443611.1:p.Cys746_Arg755del
ENST00000674908.1:c.*1644_*1673del ENSP00000502012.1:n.*1644_*1673del
ENST00000675670.1:c.2557_2586del ENSP00000502135.1:p.Cys853_Arg862del
XM_005253918.1:c.2557_2586del XP_005253975.1:p.Cys853_Arg862del
XM_011538630.1:c.2557_2586del XP_011536932.1:p.Cys853_Arg862del
XM_011538630.2:c.2710_2739del XP_011536932.2:p.Cys904_Arg913del
XM_011538631.1:c.2416_2445del XP_011536933.1:p.Cys806_Arg815del
XM_011538631.2:c.2569_2598del XP_011536933.2:p.Cys857_Arg866del
XM_011538632.1:c.2377_2406del XP_011536934.1:p.Cys793_Arg802del
XM_011538632.2:c.2530_2559del XP_011536934.2:p.Cys844_Arg853del
XM_011538633.1:c.2236_2265del XP_011536935.1:p.Cys746_Arg755del
XM_011538633.2:c.2389_2418del XP_011536935.2:p.Cys797_Arg806del
XM_017019774.1:c.2557_2586del XP_016875263.1:p.Cys853_Arg862del