Canonical Allele Identifier: CA2587198130

Gene: NLRP7

Linked Data

• gnomAD v4: 19-54938281-TGCATGGTGAGATGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54938286_54938299del , CM000681.2:g.54938286_54938299del	GRCh38
NC_000019.8:g.60141466_60141479del	NCBI36
NG_008056.1:g.14211_14224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592784.6:c.1932-54_1932-41del MANE Select	ENSP00000468706.1:n.1932-54_1932-41del
ENST00000328092.9:c.1932-138_1932-125del	ENSP00000329568.5:n.1932-138_1932-125del
ENST00000340844.6:c.1932-54_1932-41del	ENSP00000339491.2:n.1932-54_1932-41del
ENST00000586379.5:c.1932-54_1932-41del	ENSP00000468243.1:n.1932-54_1932-41del
ENST00000588756.5:c.1932-54_1932-41del	ENSP00000467123.1:n.1932-54_1932-41del
ENST00000590030.5:c.1932-54_1932-41del	ENSP00000465520.1:n.1932-54_1932-41del
ENST00000592784.5:c.1932-54_1932-41del	ENSP00000468706.1:n.1932-54_1932-41del
NM_001127255.1:c.1932-54_1932-41del	NP_001120727.1:n.1932-54_1932-41del
NM_139176.3:c.1932-138_1932-125del	NP_631915.2:n.1932-138_1932-125del
NM_206828.3:c.1932-54_1932-41del	NP_996611.2:n.1932-54_1932-41del
XM_006723075.2:c.1932-54_1932-41del	XP_006723138.1:n.1932-54_1932-41del
XM_006723076.2:c.1932-54_1932-41del	XP_006723139.1:n.1932-54_1932-41del
XM_011526596.1:c.2016-54_2016-41del	XP_011524898.1:n.2016-54_2016-41del
XM_011526597.1:c.2016-54_2016-41del	XP_011524899.1:n.2016-54_2016-41del
XM_011526598.1:c.2016-54_2016-41del	XP_011524900.1:n.2016-54_2016-41del
XM_011526599.1:c.1932-54_1932-41del	XP_011524901.1:n.1932-54_1932-41del
XM_011526600.1:c.1932-54_1932-41del	XP_011524902.1:n.1932-54_1932-41del
XM_011526601.1:c.2016-54_2016-41del	XP_011524903.1:n.2016-54_2016-41del
XR_935761.1:n.2450-54_2450-41del
XM_006723075.3:c.1932-54_1932-41del	XP_006723138.1:n.1932-54_1932-41del
XM_006723076.3:c.1932-54_1932-41del	XP_006723139.1:n.1932-54_1932-41del
XM_011526596.2:c.2016-54_2016-41del	XP_011524898.1:n.2016-54_2016-41del
XM_011526599.2:c.1932-54_1932-41del	XP_011524901.1:n.1932-54_1932-41del
XM_011526601.2:c.2016-54_2016-41del	XP_011524903.1:n.2016-54_2016-41del