Canonical Allele Identifier: CA310017854

Gene: NLRP7

Linked Data

• dbSNP Id: rs746628910
• gnomAD v3: 19-54939358-C-CT
• gnomAD v4: 19-54939358-C-CT
• MyVariant Identifiers: chr19:g.54939358_54939359insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54939358_54939359insT , CM000681.2:g.54939358_54939359insT	GRCh38
NC_000019.8:g.60142538_60142539insT	NCBI36
NG_008056.1:g.13147_13148insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592784.6:c.1460_1461insA MANE Select	ENSP00000468706.1:p.Glu488GlyfsTer?
ENST00000328092.9:c.1460_1461insA	ENSP00000329568.5:p.Glu488GlyfsTer?
ENST00000340844.6:c.1460_1461insA	ENSP00000339491.2:p.Glu488GlyfsTer?
ENST00000586379.5:c.1460_1461insA	ENSP00000468243.1:p.Glu488GlyfsTer?
ENST00000588756.5:c.1460_1461insA	ENSP00000467123.1:p.Glu488GlyfsTer?
ENST00000590030.5:c.1460_1461insA	ENSP00000465520.1:p.Glu488GlyfsTer?
ENST00000592784.5:c.1460_1461insA	ENSP00000468706.1:p.Glu488GlyfsTer?
NM_001127255.1:c.1460_1461insA	NP_001120727.1:p.Glu488GlyfsTer?
NM_139176.3:c.1460_1461insA	NP_631915.2:p.Glu488GlyfsTer?
NM_206828.3:c.1460_1461insA	NP_996611.2:p.Glu488GlyfsTer?
XM_006723075.2:c.1460_1461insA	XP_006723138.1:p.Glu488GlyfsTer?
XM_006723076.2:c.1460_1461insA	XP_006723139.1:p.Glu488GlyfsTer?
XM_011526596.1:c.1544_1545insA	XP_011524898.1:p.Glu516GlyfsTer?
XM_011526597.1:c.1544_1545insA	XP_011524899.1:p.Glu516GlyfsTer?
XM_011526598.1:c.1544_1545insA	XP_011524900.1:p.Glu516GlyfsTer?
XM_011526599.1:c.1460_1461insA	XP_011524901.1:p.Glu488GlyfsTer?
XM_011526600.1:c.1460_1461insA	XP_011524902.1:p.Glu488GlyfsTer?
XM_011526601.1:c.1544_1545insA	XP_011524903.1:p.Glu516GlyfsTer?
XR_935761.1:n.1978_1979insA
XM_006723075.3:c.1460_1461insA	XP_006723138.1:p.Glu488GlyfsTer?
XM_006723076.3:c.1460_1461insA	XP_006723139.1:p.Glu488GlyfsTer?
XM_011526596.2:c.1544_1545insA	XP_011524898.1:p.Glu516GlyfsTer?
XM_011526599.2:c.1460_1461insA	XP_011524901.1:p.Glu488GlyfsTer?
XM_011526601.2:c.1544_1545insA	XP_011524903.1:p.Glu516GlyfsTer?