Canonical Allele Identifier: CA10375497
Gene: IL1RAPL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2723730
ClinVar RCV Id: RCV003561459
dbSNP Id: rs758709777
ExAC: X:29935717 AT / A
gnomAD v2: X-29935717-AT-A
gnomAD v3: X-29917600-AT-A
gnomAD v4: X-29917600-AT-A
MyVariant Identifiers: chrX:g.29935718del (hg19) chrX:g.29917601del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.29917608del , CM000685.2:g.29917608del GRCh38
NC_000023.10:g.29935725del , CM000685.1:g.29935725del GRCh37
NC_000023.9:g.29845646del NCBI36
NG_008292.1:g.1335045del
NG_008292.2:g.1335045del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378993.6:c.911+12del MANE Select ENSP00000368278.1:n.911+12del
ENST00000302196.5:c.134+12del ENSP00000305200.5:n.134+12del
ENST00000378993.5:c.911+12del ENSP00000368278.1:n.911+12del
NM_014271.3:c.911+12del NP_055086.1:n.911+12del
XM_005274441.1:c.911+12del XP_005274498.1:n.911+12del
XM_011545445.1:c.911+12del XP_011543747.1:n.911+12del
XM_017029240.1:c.911+12del XP_016884729.1:n.911+12del
XM_017029241.1:c.533+12del XP_016884730.1:n.533+12del
NM_014271.4:c.911+12del MANE Select NP_055086.1:n.911+12del
Search 100 bp 5'
Search 100 bp 3'