Canonical Allele Identifier: CA2343150881
Gene: NLRP7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.54939391_54939414delinsAGTGAGAAACTGCTGGAAGCTGAG , CM000681.2:g.54939391_54939414delinsAGTGAGAAACTGCTGGAAGCTGAG GRCh38
NC_000019.8:g.60142571_60142594delinsAGTGAGAAACTGCTGGAAGCTGAG NCBI36
NG_008056.1:g.13092_13115delinsCTCAGCTTCCAGCAGTTTCTCACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000592784.6:c.1405_1428delinsCTCAGCTTCCAGCAGTTTCTCACT MANE Select ENSP00000468706.1:p.Leu469=
ENST00000328092.9:c.1405_1428delinsCTCAGCTTCCAGCAGTTTCTCACT ENSP00000329568.5:p.Leu469=
ENST00000340844.6:c.1405_1428delinsCTCAGCTTCCAGCAGTTTCTCACT ENSP00000339491.2:p.Leu469=
ENST00000586379.5:c.1405_1428delinsCTCAGCTTCCAGCAGTTTCTCACT ENSP00000468243.1:p.Leu469=
ENST00000588756.5:c.1405_1428delinsCTCAGCTTCCAGCAGTTTCTCACT ENSP00000467123.1:p.Leu469=
ENST00000590030.5:c.1405_1428delinsCTCAGCTTCCAGCAGTTTCTCACT ENSP00000465520.1:p.Leu469=
ENST00000592784.5:c.1405_1428delinsCTCAGCTTCCAGCAGTTTCTCACT ENSP00000468706.1:p.Leu469=
NM_001127255.1:c.1405_1428delinsCTCAGCTTCCAGCAGTTTCTCACT NP_001120727.1:p.Leu469=
NM_139176.3:c.1405_1428delinsCTCAGCTTCCAGCAGTTTCTCACT NP_631915.2:p.Leu469=
NM_206828.3:c.1405_1428delinsCTCAGCTTCCAGCAGTTTCTCACT NP_996611.2:p.Leu469=
XM_006723075.2:c.1405_1428delinsCTCAGCTTCCAGCAGTTTCTCACT XP_006723138.1:p.Leu469=
XM_006723076.2:c.1405_1428delinsCTCAGCTTCCAGCAGTTTCTCACT XP_006723139.1:p.Leu469=
XM_011526596.1:c.1489_1512delinsCTCAGCTTCCAGCAGTTTCTCACT XP_011524898.1:p.Leu497=
XM_011526597.1:c.1489_1512delinsCTCAGCTTCCAGCAGTTTCTCACT XP_011524899.1:p.Leu497=
XM_011526598.1:c.1489_1512delinsCTCAGCTTCCAGCAGTTTCTCACT XP_011524900.1:p.Leu497=
XM_011526599.1:c.1405_1428delinsCTCAGCTTCCAGCAGTTTCTCACT XP_011524901.1:p.Leu469=
XM_011526600.1:c.1405_1428delinsCTCAGCTTCCAGCAGTTTCTCACT XP_011524902.1:p.Leu469=
XM_011526601.1:c.1489_1512delinsCTCAGCTTCCAGCAGTTTCTCACT XP_011524903.1:p.Leu497=
XR_935761.1:n.1923_1946delinsCTCAGCTTCCAGCAGTTTCTCACT
XM_006723075.3:c.1405_1428delinsCTCAGCTTCCAGCAGTTTCTCACT XP_006723138.1:p.Leu469=
XM_006723076.3:c.1405_1428delinsCTCAGCTTCCAGCAGTTTCTCACT XP_006723139.1:p.Leu469=
XM_011526596.2:c.1489_1512delinsCTCAGCTTCCAGCAGTTTCTCACT XP_011524898.1:p.Leu497=
XM_011526599.2:c.1405_1428delinsCTCAGCTTCCAGCAGTTTCTCACT XP_011524901.1:p.Leu469=
XM_011526601.2:c.1489_1512delinsCTCAGCTTCCAGCAGTTTCTCACT XP_011524903.1:p.Leu497=