Canonical Allele Identifier: CA633934433
Gene: NLRP5 HGNC NCBI

Linked Data

dbSNP Id: rs1298631387
gnomAD v2: 19-56500946-CAATATG-C
gnomAD v3: 19-55989580-CAATATG-C
gnomAD v4: 19-55989580-CAATATG-C
MyVariant Identifiers: chr19:g.56500947_56500952del (hg19) chr19:g.55989581_55989586del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55989582_55989587del , CM000681.2:g.55989582_55989587del GRCh38
NC_000019.9:g.56500948_56500953del , CM000681.1:g.56500948_56500953del GRCh37
NC_000019.8:g.61192760_61192765del NCBI36
NG_046924.1:g.7800_7805del
NG_051553.1:g.46751_46756del

Transcript Alleles

HGVS Amino-acid Change
XM_011526444.1:c.-72+2761_-72+2766del XP_011524746.1:n.-72+2761_-72+2766del
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