Canonical Allele Identifier: CA347737
Gene: TRPV4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109784366_109784382del , CM000674.2:g.109784366_109784382del GRCh38
NC_000012.11:g.110222171_110222187del , CM000674.1:g.110222171_110222187del GRCh37
NC_000012.10:g.108706554_108706570del NCBI36
NG_017090.1:g.54030_54046del , LRG_372:g.54030_54046del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261740.7:c.2396_2412del MANE Select ENSP00000261740.2:p.Pro799LeufsTer?
ENST00000418703.7:c.2396_2412del ENSP00000406191.2:p.Pro799LeufsTer?
ENST00000674908.1:c.*1483_*1499del ENSP00000502012.1:n.*1483_*1499del
ENST00000675670.1:c.2396_2412del ENSP00000502135.1:p.Pro799LeufsTer?
ENST00000261740.6:c.2396_2412del ENSP00000261740.2:p.Pro799LeufsTer?
ENST00000418703.6:c.2396_2412del ENSP00000406191.2:p.Pro799LeufsTer?
ENST00000536838.1:c.2294_2310del ENSP00000444336.1:p.Pro765LeufsTer?
ENST00000537083.5:c.2216_2232del ENSP00000442738.1:p.Pro739LeufsTer?
ENST00000538125.5:c.*779_*795del ENSP00000437449.1:n.*779_*795del
ENST00000541794.5:c.2255_2271del ENSP00000442167.1:p.Pro752LeufsTer?
ENST00000544971.5:c.2075_2091del ENSP00000443611.1:p.Pro692LeufsTer?
NM_001177428.1:c.2255_2271del NP_001170899.1:p.Pro752LeufsTer?
NM_001177431.1:c.2294_2310del NP_001170902.1:p.Pro765LeufsTer?
NM_001177433.1:c.2075_2091del NP_001170904.1:p.Pro692LeufsTer?
NM_021625.4:c.2396_2412del , LRG_372t1:c.2396_2412del NP_067638.3:p.Pro799LeufsTer?
NM_147204.2:c.2216_2232del NP_671737.1:p.Pro739LeufsTer?
XM_005253918.1:c.2396_2412del XP_005253975.1:p.Pro799LeufsTer?
XM_011538630.1:c.2396_2412del XP_011536932.1:p.Pro799LeufsTer?
XM_011538631.1:c.2255_2271del XP_011536933.1:p.Pro752LeufsTer?
XM_011538632.1:c.2216_2232del XP_011536934.1:p.Pro739LeufsTer?
XM_011538633.1:c.2075_2091del XP_011536935.1:p.Pro692LeufsTer?
XM_011538630.2:c.2549_2565del XP_011536932.2:p.Pro850LeufsTer?
XM_011538631.2:c.2408_2424del XP_011536933.2:p.Pro803LeufsTer?
XM_011538632.2:c.2369_2385del XP_011536934.2:p.Pro790LeufsTer?
XM_011538633.2:c.2228_2244del XP_011536935.2:p.Pro743LeufsTer?
XM_017019774.1:c.2396_2412del XP_016875263.1:p.Pro799LeufsTer?
NM_021625.5:c.2396_2412del MANE Select NP_067638.3:p.Pro799LeufsTer?