Canonical Allele Identifier: CA2062572678

Gene: TRPV4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109798524_109798527delinsTTAA , CM000674.2:g.109798524_109798527delinsTTAA	GRCh38
NC_000012.11:g.110236329_110236332delinsTTAA , CM000674.1:g.110236329_110236332delinsTTAA	GRCh37
NC_000012.10:g.108720712_108720715delinsTTAA	NCBI36
NG_017090.1:g.39881_39884delinsTTAA , LRG_372:g.39881_39884delinsTTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.1152+87_1152+90delinsTTAA MANE Select	ENSP00000261740.2:n.1152+87_1152+90delinsTTAA
ENST00000418703.7:c.1152+87_1152+90delinsTTAA	ENSP00000406191.2:n.1152+87_1152+90delinsTTAA
ENST00000674908.1:c.*239+87_*239+90delinsTTAA	ENSP00000502012.1:n.*239+87_*239+90delinsTTAA
ENST00000675533.1:n.1183+87_1183+90delinsTTAA
ENST00000675670.1:c.1152+87_1152+90delinsTTAA	ENSP00000502135.1:n.1152+87_1152+90delinsTTAA
ENST00000676376.1:n.1183+87_1183+90delinsTTAA
ENST00000261740.6:c.1152+87_1152+90delinsTTAA	ENSP00000261740.2:n.1152+87_1152+90delinsTTAA
ENST00000418703.6:c.1152+87_1152+90delinsTTAA	ENSP00000406191.2:n.1152+87_1152+90delinsTTAA
ENST00000536838.1:c.1050+87_1050+90delinsTTAA	ENSP00000444336.1:n.1050+87_1050+90delinsTTAA
ENST00000537083.5:c.1152+87_1152+90delinsTTAA	ENSP00000442738.1:n.1152+87_1152+90delinsTTAA
ENST00000538125.5:c.1152+87_1152+90delinsTTAA	ENSP00000437449.1:n.1152+87_1152+90delinsTTAA
ENST00000541794.5:c.1011+87_1011+90delinsTTAA	ENSP00000442167.1:n.1011+87_1011+90delinsTTAA
ENST00000544971.5:c.1011+87_1011+90delinsTTAA	ENSP00000443611.1:n.1011+87_1011+90delinsTTAA
NM_001177428.1:c.1011+87_1011+90delinsTTAA	NP_001170899.1:n.1011+87_1011+90delinsTTAA
NM_001177431.1:c.1050+87_1050+90delinsTTAA	NP_001170902.1:n.1050+87_1050+90delinsTTAA
NM_001177433.1:c.1011+87_1011+90delinsTTAA	NP_001170904.1:n.1011+87_1011+90delinsTTAA
NM_021625.4:c.1152+87_1152+90delinsTTAA , LRG_372t1:c.1152+87_1152+90delinsTTAA	NP_067638.3:n.1152+87_1152+90delinsTTAA
NM_147204.2:c.1152+87_1152+90delinsTTAA	NP_671737.1:n.1152+87_1152+90delinsTTAA
XM_005253918.1:c.1152+87_1152+90delinsTTAA	XP_005253975.1:n.1152+87_1152+90delinsTTAA
XM_011538630.1:c.1152+87_1152+90delinsTTAA	XP_011536932.1:n.1152+87_1152+90delinsTTAA
XM_011538631.1:c.1011+87_1011+90delinsTTAA	XP_011536933.1:n.1011+87_1011+90delinsTTAA
XM_011538632.1:c.1152+87_1152+90delinsTTAA	XP_011536934.1:n.1152+87_1152+90delinsTTAA
XM_011538633.1:c.1011+87_1011+90delinsTTAA	XP_011536935.1:n.1011+87_1011+90delinsTTAA
XM_011538634.1:c.1152+87_1152+90delinsTTAA	XP_011536936.1:n.1152+87_1152+90delinsTTAA
XM_011538635.1:c.1305+87_1305+90delinsTTAA	XP_011536937.1:n.1305+87_1305+90delinsTTAA
XM_011538636.1:c.1305+87_1305+90delinsTTAA	XP_011536938.1:n.1305+87_1305+90delinsTTAA
XM_011538630.2:c.1305+87_1305+90delinsTTAA	XP_011536932.2:n.1305+87_1305+90delinsTTAA
XM_011538631.2:c.1164+87_1164+90delinsTTAA	XP_011536933.2:n.1164+87_1164+90delinsTTAA
XM_011538632.2:c.1305+87_1305+90delinsTTAA	XP_011536934.2:n.1305+87_1305+90delinsTTAA
XM_011538633.2:c.1164+87_1164+90delinsTTAA	XP_011536935.2:n.1164+87_1164+90delinsTTAA
XM_011538634.2:c.1305+87_1305+90delinsTTAA	XP_011536936.2:n.1305+87_1305+90delinsTTAA
XM_011538635.2:c.1305+87_1305+90delinsTTAA	XP_011536937.1:n.1305+87_1305+90delinsTTAA
XM_017019774.1:c.1152+87_1152+90delinsTTAA	XP_016875263.1:n.1152+87_1152+90delinsTTAA
NM_021625.5:c.1152+87_1152+90delinsTTAA MANE Select	NP_067638.3:n.1152+87_1152+90delinsTTAA