Canonical Allele Identifier: CA10653879
Gene: IL1RAPL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 368184
ClinVar RCV Id: RCV000323102
dbSNP Id: rs779869307
gnomAD v2: X-28605876-GTT-G
gnomAD v3: X-28587759-GTT-G
gnomAD v4: X-28587759-GTT-G
MyVariant Identifiers: chrX:g.28605886_28605887del (hg19) chrX:g.28605877_28605878del (hg19) chrX:g.28587769_28587770del (hg38) chrX:g.28587760_28587761del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.28587769_28587770del , CM000685.2:g.28587769_28587770del GRCh38
NC_000023.10:g.28605886_28605887del , CM000685.1:g.28605886_28605887del GRCh37
NC_000023.9:g.28515807_28515808del NCBI36
NG_008292.1:g.5206_5207del
NG_008292.2:g.5206_5207del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378993.6:c.-303_-302del MANE Select ENSP00000368278.1:n.-303_-302del
ENST00000378993.5:c.-303_-302del ENSP00000368278.1:n.-303_-302del
NM_014271.3:c.-303_-302del NP_055086.1:n.-303_-302del
NM_014271.4:c.-303_-302del MANE Select NP_055086.1:n.-303_-302del
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