Canonical Allele Identifier: CA2580097747

Gene: NLRP12

Linked Data

• ClinVar Variation Id: 1995658
• ClinVar RCV Id: RCV002819361
• gnomAD v4: 19-53810791-G-GGAGGCGCTCGGGAACTCGGATGAGCTCCTGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.53810799_53810830dup , CM000681.2:g.53810799_53810830dup	GRCh38
NC_000019.9:g.54314053_54314084dup , CM000681.1:g.54314053_54314084dup	GRCh37
NC_000019.8:g.59005865_59005896dup	NCBI36
NG_008651.1:g.18572_18603dup
NG_008651.2:g.18572_18603dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000391773.7:c.836_867dup	ENSP00000375653.1:p.Leu290SerfsTer?
ENST00000324134.11:c.836_867dup MANE Select	ENSP00000319377.6:p.Leu290SerfsTer?
ENST00000391773.6:c.836_867dup	ENSP00000375653.1:p.Leu290SerfsTer?
ENST00000324134.10:c.836_867dup	ENSP00000319377.6:p.Leu290SerfsTer?
ENST00000345770.9:c.836_867dup	ENSP00000341428.5:p.Leu290SerfsTer?
ENST00000391772.1:c.836_867dup	ENSP00000375652.1:p.Leu290SerfsTer?
ENST00000391773.5:c.836_867dup	ENSP00000375653.1:p.Leu290SerfsTer?
ENST00000391775.7:c.836_867dup	ENSP00000375655.3:p.Leu290SerfsTer?
NM_001277126.1:c.836_867dup	NP_001264055.1:p.Leu290SerfsTer?
NM_001277129.1:c.836_867dup	NP_001264058.1:p.Leu290SerfsTer?
NM_144687.3:c.836_867dup	NP_653288.1:p.Leu290SerfsTer?
XM_011527478.1:c.668_699dup	XP_011525780.1:p.Leu234SerfsTer?
XM_011527479.1:c.836_867dup	XP_011525781.1:p.Leu290SerfsTer?
XM_011527480.1:c.836_867dup	XP_011525782.1:p.Leu290SerfsTer?
XM_011527481.1:c.836_867dup	XP_011525783.1:p.Leu290SerfsTer?
XM_011527482.1:c.836_867dup	XP_011525784.1:p.Leu290SerfsTer?
XM_011527483.1:c.836_867dup	XP_011525785.1:p.Leu290SerfsTer?
XM_017027460.1:c.836_867dup	XP_016882949.1:p.Leu290SerfsTer?
XM_017027461.1:c.836_867dup	XP_016882950.1:p.Leu290SerfsTer?
XM_017027462.1:c.836_867dup	XP_016882951.1:p.Leu290SerfsTer?
XM_017027463.1:c.419_450dup	XP_016882952.1:p.Leu151SerfsTer?
XM_017027464.1:c.419_450dup	XP_016882953.1:p.Leu151SerfsTer?
XM_017027465.1:c.419_450dup	XP_016882954.1:p.Leu151SerfsTer?
XM_017027466.1:c.419_450dup	XP_016882955.1:p.Leu151SerfsTer?
XM_017027467.1:c.419_450dup	XP_016882956.1:p.Leu151SerfsTer?
NM_001277126.2:c.836_867dup	NP_001264055.1:p.Leu290SerfsTer?
NM_144687.4:c.836_867dup MANE Select	NP_653288.1:p.Leu290SerfsTer?