Canonical Allele Identifier: CA2580093549
Gene: NLRP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5515479_5515480delinsAA , CM000679.2:g.5515479_5515480delinsAA GRCh38
NC_000017.10:g.5418799_5418800delinsAA , CM000679.1:g.5418799_5418800delinsAA GRCh37
NC_000017.9:g.5359523_5359524delinsAA NCBI36
NG_011651.1:g.74033_74034delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000262467.11:c.4069+2266_4069+2267delinsTT ENSP00000262467.5:n.4069+2266_4069+2267delinsTT
ENST00000269280.9:c.3963_3964delinsTT ENSP00000269280.4:p.Arg1322Cys
ENST00000354411.8:c.4005_4006delinsTT ENSP00000346390.3:p.Arg1336Cys
ENST00000544378.7:c.4069+2266_4069+2267delinsTT ENSP00000442029.2:n.4069+2266_4069+2267delinsTT
ENST00000571451.7:c.3963_3964delinsTT ENSP00000459661.3:p.Arg1322Cys
ENST00000572143.2:c.4048+2266_4048+2267delinsTT ENSP00000514476.1:n.4048+2266_4048+2267delinsTT
ENST00000576905.6:c.3963_3964delinsTT ENSP00000458303.2:p.Arg1322Cys
ENST00000617618.5:c.4095_4096delinsTT ENSP00000478516.1:p.Arg1366Cys
ENST00000699586.1:c.*868_*869delinsTT ENSP00000514458.1:n.*868_*869delinsTT
ENST00000699612.1:c.366+2266_366+2267delinsTT
ENST00000699613.1:c.4095_4096delinsTT ENSP00000514477.1:p.Arg1366Cys
ENST00000699614.1:c.3925+2266_3925+2267delinsTT ENSP00000514478.1:n.3925+2266_3925+2267delinsTT
ENST00000699615.1:c.*1813_*1814delinsTT ENSP00000514479.1:n.*1813_*1814delinsTT
ENST00000699622.1:c.1213+2266_1213+2267delinsTT
ENST00000699623.1:c.4057+2266_4057+2267delinsTT ENSP00000514483.1:n.4057+2266_4057+2267delinsTT
ENST00000699624.1:n.3297+2266_3297+2267delinsTT
ENST00000699625.1:c.4070+2266_4070+2267delinsTT ENSP00000514484.1:n.4070+2266_4070+2267delinsTT
ENST00000699629.1:c.*1476_*1477delinsTT ENSP00000514488.1:n.*1476_*1477delinsTT
ENST00000699630.1:c.*3342+2266_*3342+2267delinsTT ENSP00000514489.1:n.*3342+2266_*3342+2267delinsTT
ENST00000699631.1:n.4857+2266_4857+2267delinsTT
ENST00000699632.1:c.4200_4201delinsTT ENSP00000514490.1:n.4200_4201delinsTT
ENST00000699633.1:c.4107_4108delinsTT ENSP00000514491.1:p.Arg1370Cys
ENST00000699634.1:c.4095_4096delinsTT ENSP00000514492.1:p.Arg1366Cys
ENST00000699635.1:n.1257_1258delinsTT
ENST00000699636.1:n.6810_6811delinsTT
ENST00000699642.1:c.*3280_*3281delinsTT ENSP00000514495.1:n.*3280_*3281delinsTT
ENST00000699643.1:c.*3743_*3744delinsTT ENSP00000514496.1:n.*3743_*3744delinsTT
ENST00000699644.1:c.*5651_*5652delinsTT ENSP00000514497.1:n.*5651_*5652delinsTT
ENST00000699645.1:c.*3380_*3381delinsTT ENSP00000514498.1:n.*3380_*3381delinsTT
ENST00000699665.1:c.*1664_*1665delinsTT ENSP00000514508.1:n.*1664_*1665delinsTT
ENST00000699705.1:c.3937+2266_3937+2267delinsTT ENSP00000514530.1:n.3937+2266_3937+2267delinsTT
ENST00000699706.1:c.1529+2266_1529+2267delinsTT
ENST00000699707.1:c.3967+2266_3967+2267delinsTT ENSP00000514532.1:n.3967+2266_3967+2267delinsTT
ENST00000699708.1:c.*1494+2266_*1494+2267delinsTT ENSP00000514533.1:n.*1494+2266_*1494+2267delinsTT
ENST00000699709.1:c.4095_4096delinsTT ENSP00000514534.1:p.Arg1366Cys
ENST00000699710.1:c.4057+2266_4057+2267delinsTT ENSP00000514535.1:n.4057+2266_4057+2267delinsTT
ENST00000699711.1:c.*32+2266_*32+2267delinsTT ENSP00000514536.1:n.*32+2266_*32+2267delinsTT
ENST00000699712.1:c.3431-13608_3431-13607delinsTT ENSP00000514537.1:n.3431-13608_3431-13607delinsTT
ENST00000699713.1:c.*830+2266_*830+2267delinsTT ENSP00000514538.1:n.*830+2266_*830+2267delinsTT
ENST00000699771.1:c.1356+2266_1356+2267delinsTT
ENST00000699772.1:c.963+2266_963+2267delinsTT
ENST00000699773.1:c.799_800delinsTT
ENST00000699774.1:c.962_963delinsTT
ENST00000699800.1:c.142+2266_142+2267delinsTT ENSP00000514603.1:n.142+2266_142+2267delinsTT
ENST00000699801.1:c.180_181delinsTT ENSP00000514604.1:p.Arg61Cys
ENST00000699802.1:c.142+2266_142+2267delinsTT ENSP00000514605.1:n.142+2266_142+2267delinsTT
ENST00000699803.1:c.180_181delinsTT ENSP00000514606.1:p.Arg61Cys
ENST00000699804.1:c.862_863delinsTT
ENST00000699805.1:c.873_874delinsTT
ENST00000699806.1:c.425_426delinsTT
ENST00000262467.10:c.4069+2266_4069+2267delinsTT ENSP00000262467.5:n.4069+2266_4069+2267delinsTT
ENST00000572272.6:c.4095_4096delinsTT MANE Select ENSP00000460475.1:p.Arg1366Cys
ENST00000262467.9:c.4069+2266_4069+2267delinsTT ENSP00000262467.5:n.4069+2266_4069+2267delinsTT
ENST00000269280.8:c.3963_3964delinsTT ENSP00000269280.4:p.Arg1322Cys
ENST00000345221.7:c.3963_3964delinsTT ENSP00000324366.3:p.Arg1322Cys
ENST00000354411.7:c.4005_4006delinsTT ENSP00000346390.3:p.Arg1336Cys
ENST00000544378.6:c.4069+2266_4069+2267delinsTT ENSP00000442029.2:n.4069+2266_4069+2267delinsTT
ENST00000571451.6:c.*809_*810delinsTT ENSP00000459661.2:n.*809_*810delinsTT
ENST00000572272.5:c.4095_4096delinsTT ENSP00000460475.1:p.Arg1366Cys
ENST00000574512.1:n.820+2266_820+2267delinsTT
ENST00000577119.5:c.3873_3874delinsTT ENSP00000460216.1:p.Arg1292Cys
ENST00000613500.4:c.4069+2266_4069+2267delinsTT ENSP00000483359.1:n.4069+2266_4069+2267delinsTT
ENST00000617618.4:c.4095_4096delinsTT ENSP00000478516.1:p.Arg1366Cys
ENST00000619223.4:c.4005_4006delinsTT ENSP00000484692.1:p.Arg1336Cys
NM_001033053.2:c.4069+2266_4069+2267delinsTT NP_001028225.1:n.4069+2266_4069+2267delinsTT
NM_014922.4:c.3963_3964delinsTT NP_055737.1:p.Arg1322Cys
NM_033004.3:c.4095_4096delinsTT NP_127497.1:p.Arg1366Cys
NM_033006.3:c.4005_4006delinsTT NP_127499.1:p.Arg1336Cys
NM_033007.3:c.3873_3874delinsTT NP_127500.1:p.Arg1292Cys
NM_033004.4:c.4095_4096delinsTT MANE Select NP_127497.1:p.Arg1366Cys
NM_001033053.3:c.4069+2266_4069+2267delinsTT NP_001028225.1:n.4069+2266_4069+2267delinsTT
NM_014922.5:c.3963_3964delinsTT NP_055737.1:p.Arg1322Cys
NM_033006.4:c.4005_4006delinsTT NP_127499.1:p.Arg1336Cys
NM_033007.4:c.3873_3874delinsTT NP_127500.1:p.Arg1292Cys