Canonical Allele Identifier: CA883711262

Gene: NLRP7 NLRP2

Linked Data

• dbSNP Id: rs544604816
• gnomAD v3: 19-54961498-C-CTAAA
• gnomAD v4: 19-54961498-C-CTAAA
• MyVariant Identifiers: chr19:g.54961510_54961511insTAAA (hg38) ; chr19:g.54961498_54961499insTAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54961519_54961522dup , CM000681.2:g.54961519_54961522dup	GRCh38
NC_000019.8:g.60164699_60164702dup	NCBI36
NG_052633.1:g.13390_13393dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000587103.5:c.-77+4538_-77+4541dup (NLRP7)	ENSP00000467234.1:n.-77+4538_-77+4541dup
ENST00000587844.1:c.-40+4538_-40+4541dup (NLRP7)	ENSP00000468161.1:n.-40+4538_-40+4541dup
ENST00000588107.5:c.-18+8150_-18+8153dup (NLRP2)	ENSP00000465069.1:n.-18+8150_-18+8153dup
ENST00000588619.5:c.-18+8234_-18+8237dup (NLRP2)	ENSP00000466260.1:n.-18+8234_-18+8237dup
ENST00000588756.5:c.-284+4538_-284+4541dup (NLRP7)	ENSP00000467123.1:n.-284+4538_-284+4541du...
ENST00000590659.1:c.-204+4538_-204+4541dup (NLRP7)	ENSP00000467589.1:n.-204+4538_-204+4541du...
XM_006723075.2:c.-77+3448_-77+3451dup (NLRP7)	XP_006723138.1:n.-77+3448_-77+3451dup
XM_006723076.2:c.-40+3448_-40+3451dup (NLRP7)	XP_006723139.1:n.-40+3448_-40+3451dup
XM_011526596.1:c.-200+3448_-200+3451dup (NLRP7)	XP_011524898.1:n.-200+3448_-200+3451dup
XM_011526597.1:c.-200+8354_-200+8357dup (NLRP7)	XP_011524899.1:n.-200+8354_-200+8357dup
XM_011526598.1:c.-109+3448_-109+3451dup (NLRP7)	XP_011524900.1:n.-109+3448_-109+3451dup
XM_011526599.1:c.-295+3448_-295+3451dup (NLRP7)	XP_011524901.1:n.-295+3448_-295+3451dup
XM_011526600.1:c.-77+4538_-77+4541dup (NLRP7)	XP_011524902.1:n.-77+4538_-77+4541dup
XM_011526601.1:c.-200+3448_-200+3451dup (NLRP7)	XP_011524903.1:n.-200+3448_-200+3451dup
XR_935761.1:n.235+3448_235+3451dup (NLRP7)
XM_006723075.3:c.-77+3448_-77+3451dup (NLRP7)	XP_006723138.1:n.-77+3448_-77+3451dup
XM_006723076.3:c.-40+3448_-40+3451dup (NLRP7)	XP_006723139.1:n.-40+3448_-40+3451dup
XM_011526596.2:c.-200+3448_-200+3451dup (NLRP7)	XP_011524898.1:n.-200+3448_-200+3451dup
XM_011526599.2:c.-295+3448_-295+3451dup (NLRP7)	XP_011524901.1:n.-295+3448_-295+3451dup
XM_011526601.2:c.-200+3448_-200+3451dup (NLRP7)	XP_011524903.1:n.-200+3448_-200+3451dup