Canonical Allele Identifier: CA883711219

Gene: NLRP7 NLRP2

Linked Data

• gnomAD v3: 19-54961479-C-CAGAGCGAGAGTCTGTCTCA
• gnomAD v4: 19-54961479-C-CAGAGCGAGAGTCTGTCTCA
• MyVariant Identifiers: chr19:g.54961479_54961480insAGAGCGAGAGTCTGTCTCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54961480_54961481insGAGCGAGAGTCTGTCTCAA , CM000681.2:g.54961480_54961481insGAGCGAGAGTCTGTCTCAA	GRCh38
NC_000019.8:g.60164660_60164661insGAGCGAGAGTCTGTCTCAA	NCBI36
NG_052633.1:g.13351_13352insGAGCGAGAGTCTGTCTCAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000587103.5:c.-77+4560_-77+4561insTGAGACAGACTCTCGCTCT (NLRP7)	ENSP00000467234.1:n.-77+4560_-77+4561insT...
ENST00000587844.1:c.-40+4560_-40+4561insTGAGACAGACTCTCGCTCT (NLRP7)	ENSP00000468161.1:n.-40+4560_-40+4561insT...
ENST00000588107.5:c.-18+8111_-18+8112insGAGCGAGAGTCTGTCTCAA (NLRP2)	ENSP00000465069.1:n.-18+8111_-18+8112insG...
ENST00000588619.5:c.-18+8195_-18+8196insGAGCGAGAGTCTGTCTCAA (NLRP2)	ENSP00000466260.1:n.-18+8195_-18+8196insG...
ENST00000588756.5:c.-284+4560_-284+4561insTGAGACAGACTCTCGCTCT (NLRP7)	ENSP00000467123.1:n.-284+4560_-284+4561in...
ENST00000590659.1:c.-204+4560_-204+4561insTGAGACAGACTCTCGCTCT (NLRP7)	ENSP00000467589.1:n.-204+4560_-204+4561in...
XM_006723075.2:c.-77+3470_-77+3471insTGAGACAGACTCTCGCTCT (NLRP7)	XP_006723138.1:n.-77+3470_-77+3471insTGAG...
XM_006723076.2:c.-40+3470_-40+3471insTGAGACAGACTCTCGCTCT (NLRP7)	XP_006723139.1:n.-40+3470_-40+3471insTGAG...
XM_011526596.1:c.-200+3470_-200+3471insTGAGACAGACTCTCGCTCT (NLRP7)	XP_011524898.1:n.-200+3470_-200+3471insTG...
XM_011526597.1:c.-200+8376_-200+8377insTGAGACAGACTCTCGCTCT (NLRP7)	XP_011524899.1:n.-200+8376_-200+8377insTG...
XM_011526598.1:c.-109+3470_-109+3471insTGAGACAGACTCTCGCTCT (NLRP7)	XP_011524900.1:n.-109+3470_-109+3471insTG...
XM_011526599.1:c.-295+3470_-295+3471insTGAGACAGACTCTCGCTCT (NLRP7)	XP_011524901.1:n.-295+3470_-295+3471insTG...
XM_011526600.1:c.-77+4560_-77+4561insTGAGACAGACTCTCGCTCT (NLRP7)	XP_011524902.1:n.-77+4560_-77+4561insTGAG...
XM_011526601.1:c.-200+3470_-200+3471insTGAGACAGACTCTCGCTCT (NLRP7)	XP_011524903.1:n.-200+3470_-200+3471insTG...
XR_935761.1:n.235+3470_235+3471insTGAGACAGACTCTCGCTCT (NLRP7)
XM_006723075.3:c.-77+3470_-77+3471insTGAGACAGACTCTCGCTCT (NLRP7)	XP_006723138.1:n.-77+3470_-77+3471insTGAG...
XM_006723076.3:c.-40+3470_-40+3471insTGAGACAGACTCTCGCTCT (NLRP7)	XP_006723139.1:n.-40+3470_-40+3471insTGAG...
XM_011526596.2:c.-200+3470_-200+3471insTGAGACAGACTCTCGCTCT (NLRP7)	XP_011524898.1:n.-200+3470_-200+3471insTG...
XM_011526599.2:c.-295+3470_-295+3471insTGAGACAGACTCTCGCTCT (NLRP7)	XP_011524901.1:n.-295+3470_-295+3471insTG...
XM_011526601.2:c.-200+3470_-200+3471insTGAGACAGACTCTCGCTCT (NLRP7)	XP_011524903.1:n.-200+3470_-200+3471insTG...