Canonical Allele Identifier: CA407860473

Gene: NLRP7

Linked Data

• ClinVar Variation Id: 97713
• ClinVar RCV Id: RCV000083966
• MyVariant Identifiers: chr19:g.54937779_54942137dup (hg38) ; chr19:g.54937779_54942137dup4359 (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54937811_54942169dup , CM000681.2:g.54937811_54942169dup	GRCh38
NC_000019.8:g.60140991_60145349dup	NCBI36
NG_008056.1:g.10370_14728dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000592784.6:c.-39-386_2129+266dup
ENST00000340844.6:c.-39-386_2129+266dup
ENST00000586379.5:c.-39-386_2129+266dup
ENST00000588756.5:c.-39-386_2129+266dup
ENST00000592784.5:c.-39-386_2129+266dup
NM_001127255.1:c.-39-386_2129+266dup
NM_139176.3:c.-39-386_2045+266dup
NM_206828.3:c.-39-386_2129+266dup
XM_006723075.2:c.-39-386_2129+266dup
XM_006723076.2:c.-39-386_2129+266dup
XM_011526596.1:c.46-386_2213+266dup
XM_011526597.1:c.46-386_2213+266dup
XM_011526598.1:c.46-386_2213+266dup
XM_011526599.1:c.-39-386_2129+266dup
XM_011526600.1:c.-39-386_2129+266dup
XM_011526601.1:c.46-386_2213+266dup
XR_935761.1:n.480-386_2647+266dup
XM_006723075.3:c.-39-386_2129+266dup
XM_006723076.3:c.-39-386_2129+266dup
XM_011526596.2:c.46-386_2213+266dup
XM_011526599.2:c.-39-386_2129+266dup
XM_011526601.2:c.46-386_2213+266dup