Canonical Allele Identifier: CA883692018

Gene: NLRP7

Linked Data

• dbSNP Id: rs1329480431
• gnomAD v3: 19-54939249-CG-C
• gnomAD v4: 19-54939249-CG-C
• MyVariant Identifiers: chr19:g.54939250del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54939250del , CM000681.2:g.54939250del	GRCh38
NC_000019.8:g.60142430del	NCBI36
NG_008056.1:g.13256del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592784.6:c.1569del MANE Select	ENSP00000468706.1:p.Phe523LeufsTer?
ENST00000328092.9:c.1569del	ENSP00000329568.5:p.Phe523LeufsTer?
ENST00000340844.6:c.1569del	ENSP00000339491.2:p.Phe523LeufsTer?
ENST00000586379.5:c.1569del	ENSP00000468243.1:p.Phe523LeufsTer?
ENST00000588756.5:c.1569del	ENSP00000467123.1:p.Phe523LeufsTer?
ENST00000590030.5:c.1569del	ENSP00000465520.1:p.Phe523LeufsTer?
ENST00000592784.5:c.1569del	ENSP00000468706.1:p.Phe523LeufsTer?
NM_001127255.1:c.1569del	NP_001120727.1:p.Phe523LeufsTer?
NM_139176.3:c.1569del	NP_631915.2:p.Phe523LeufsTer?
NM_206828.3:c.1569del	NP_996611.2:p.Phe523LeufsTer?
XM_006723075.2:c.1569del	XP_006723138.1:p.Phe523LeufsTer?
XM_006723076.2:c.1569del	XP_006723139.1:p.Phe523LeufsTer?
XM_011526596.1:c.1653del	XP_011524898.1:p.Phe551LeufsTer?
XM_011526597.1:c.1653del	XP_011524899.1:p.Phe551LeufsTer?
XM_011526598.1:c.1653del	XP_011524900.1:p.Phe551LeufsTer?
XM_011526599.1:c.1569del	XP_011524901.1:p.Phe523LeufsTer?
XM_011526600.1:c.1569del	XP_011524902.1:p.Phe523LeufsTer?
XM_011526601.1:c.1653del	XP_011524903.1:p.Phe551LeufsTer?
XR_935761.1:n.2087del
XM_006723075.3:c.1569del	XP_006723138.1:p.Phe523LeufsTer?
XM_006723076.3:c.1569del	XP_006723139.1:p.Phe523LeufsTer?
XM_011526596.2:c.1653del	XP_011524898.1:p.Phe551LeufsTer?
XM_011526599.2:c.1569del	XP_011524901.1:p.Phe523LeufsTer?
XM_011526601.2:c.1653del	XP_011524903.1:p.Phe551LeufsTer?