Canonical Allele Identifier: CA2635667870

Gene: NLRP1

Linked Data

• gnomAD v4: 17-5521475-GTTTAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.5521476_5521480del , CM000679.2:g.5521476_5521480del	GRCh38
NC_000017.10:g.5424796_5424800del , CM000679.1:g.5424796_5424800del	GRCh37
NC_000017.9:g.5365520_5365524del	NCBI36
NG_011651.1:g.68033_68037del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262467.11:c.3795+44_3795+48del	ENSP00000262467.5:n.3795+44_3795+48del
ENST00000269280.9:c.3783+44_3783+48del	ENSP00000269280.4:n.3783+44_3783+48del
ENST00000354411.8:c.3693+44_3693+48del	ENSP00000346390.3:n.3693+44_3693+48del
ENST00000544378.7:c.3795+44_3795+48del	ENSP00000442029.2:n.3795+44_3795+48del
ENST00000571451.7:c.3783+44_3783+48del	ENSP00000459661.3:n.3783+44_3783+48del
ENST00000572143.2:c.3774+44_3774+48del	ENSP00000514476.1:n.3774+44_3774+48del
ENST00000576905.6:c.3783+44_3783+48del	ENSP00000458303.2:n.3783+44_3783+48del
ENST00000617618.5:c.3783+44_3783+48del	ENSP00000478516.1:n.3783+44_3783+48del
ENST00000699586.1:c.*556+44_*556+48del	ENSP00000514458.1:n.*556+44_*556+48del
ENST00000699612.1:c.225-3593_225-3589del
ENST00000699613.1:c.3783+44_3783+48del	ENSP00000514477.1:n.3783+44_3783+48del
ENST00000699614.1:c.3783+44_3783+48del	ENSP00000514478.1:n.3783+44_3783+48del
ENST00000699615.1:c.*1501+44_*1501+48del	ENSP00000514479.1:n.*1501+44_*1501+48del
ENST00000699622.1:c.1072-3593_1072-3589del
ENST00000699623.1:c.3783+44_3783+48del	ENSP00000514483.1:n.3783+44_3783+48del
ENST00000699624.1:n.3023+44_3023+48del
ENST00000699625.1:c.3796+44_3796+48del	ENSP00000514484.1:n.3796+44_3796+48del
ENST00000699629.1:c.*1164+44_*1164+48del	ENSP00000514488.1:n.*1164+44_*1164+48del
ENST00000699630.1:c.*3068+44_*3068+48del	ENSP00000514489.1:n.*3068+44_*3068+48del
ENST00000699631.1:n.4583+1_4583+5del
ENST00000699632.1:c.3888+44_3888+48del	ENSP00000514490.1:n.3888+44_3888+48del
ENST00000699633.1:c.3795+44_3795+48del	ENSP00000514491.1:n.3795+44_3795+48del
ENST00000699634.1:c.3783+44_3783+48del	ENSP00000514492.1:n.3783+44_3783+48del
ENST00000699635.1:n.945+44_945+48del
ENST00000699636.1:n.6498+44_6498+48del
ENST00000699642.1:c.*2968+44_*2968+48del	ENSP00000514495.1:n.*2968+44_*2968+48del
ENST00000699643.1:c.*3431+44_*3431+48del	ENSP00000514496.1:n.*3431+44_*3431+48del
ENST00000699644.1:c.*5339+44_*5339+48del	ENSP00000514497.1:n.*5339+44_*5339+48del
ENST00000699645.1:c.*3068+44_*3068+48del	ENSP00000514498.1:n.*3068+44_*3068+48del
ENST00000699646.1:n.542_546del
ENST00000699665.1:c.*1352+44_*1352+48del	ENSP00000514508.1:n.*1352+44_*1352+48del
ENST00000699705.1:c.3795+44_3795+48del	ENSP00000514530.1:n.3795+44_3795+48del
ENST00000699706.1:c.1255+44_1255+48del
ENST00000699707.1:c.3693+44_3693+48del	ENSP00000514532.1:n.3693+44_3693+48del
ENST00000699708.1:c.*1352+44_*1352+48del	ENSP00000514533.1:n.*1352+44_*1352+48del
ENST00000699709.1:c.3783+44_3783+48del	ENSP00000514534.1:n.3783+44_3783+48del
ENST00000699710.1:c.3783+44_3783+48del	ENSP00000514535.1:n.3783+44_3783+48del
ENST00000699711.1:c.3521-3593_3521-3589del	ENSP00000514536.1:n.3521-3593_3521-3589del
ENST00000699712.1:c.3430+9001_3430+9005del	ENSP00000514537.1:n.3430+9001_3430+9005del
ENST00000699713.1:c.*556+44_*556+48del	ENSP00000514538.1:n.*556+44_*556+48del
ENST00000699771.1:c.1082+44_1082+48del
ENST00000699772.1:c.821+44_821+48del
ENST00000699773.1:c.487+44_487+48del
ENST00000699774.1:c.650+44_650+48del
ENST00000699804.1:c.682+12_682+16del
ENST00000699805.1:c.693+1_693+5del
ENST00000699806.1:c.388-5963_388-5959del
ENST00000699807.1:c.682+12_682+16del
ENST00000262467.10:c.3795+44_3795+48del	ENSP00000262467.5:n.3795+44_3795+48del
ENST00000572272.6:c.3783+44_3783+48del MANE Select	ENSP00000460475.1:n.3783+44_3783+48del
ENST00000262467.9:c.3795+44_3795+48del	ENSP00000262467.5:n.3795+44_3795+48del
ENST00000269280.8:c.3783+44_3783+48del	ENSP00000269280.4:n.3783+44_3783+48del
ENST00000345221.7:c.3783+44_3783+48del	ENSP00000324366.3:n.3783+44_3783+48del
ENST00000354411.7:c.3693+44_3693+48del	ENSP00000346390.3:n.3693+44_3693+48del
ENST00000544378.6:c.3795+44_3795+48del	ENSP00000442029.2:n.3795+44_3795+48del
ENST00000571451.6:c.*629+44_*629+48del	ENSP00000459661.2:n.*629+44_*629+48del
ENST00000572272.5:c.3783+44_3783+48del	ENSP00000460475.1:n.3783+44_3783+48del
ENST00000577119.5:c.3693+44_3693+48del	ENSP00000460216.1:n.3693+44_3693+48del
ENST00000613500.4:c.3795+44_3795+48del	ENSP00000483359.1:n.3795+44_3795+48del
ENST00000617618.4:c.3783+44_3783+48del	ENSP00000478516.1:n.3783+44_3783+48del
ENST00000619223.4:c.3693+44_3693+48del	ENSP00000484692.1:n.3693+44_3693+48del
NM_001033053.2:c.3795+44_3795+48del	NP_001028225.1:n.3795+44_3795+48del
NM_014922.4:c.3783+44_3783+48del	NP_055737.1:n.3783+44_3783+48del
NM_033004.3:c.3783+44_3783+48del	NP_127497.1:n.3783+44_3783+48del
NM_033006.3:c.3693+44_3693+48del	NP_127499.1:n.3693+44_3693+48del
NM_033007.3:c.3693+44_3693+48del	NP_127500.1:n.3693+44_3693+48del
NM_033004.4:c.3783+44_3783+48del MANE Select	NP_127497.1:n.3783+44_3783+48del
NM_001033053.3:c.3795+44_3795+48del	NP_001028225.1:n.3795+44_3795+48del
NM_014922.5:c.3783+44_3783+48del	NP_055737.1:n.3783+44_3783+48del
NM_033006.4:c.3693+44_3693+48del	NP_127499.1:n.3693+44_3693+48del
NM_033007.4:c.3693+44_3693+48del	NP_127500.1:n.3693+44_3693+48del