Canonical Allele Identifier: CA10375498

Gene: IL1RAPL1

Linked Data

• ClinVar Variation Id: 2082204
• ClinVar RCV Id: RCV002995869
• dbSNP Id: rs758709777
• ExAC: X:29935717 A / AT
• gnomAD v2: X-29935717-A-AT
• gnomAD v3: X-29917600-A-AT
• gnomAD v4: X-29917600-A-AT
• COSMIC: COSM3730736 ; COSM3730737 ; COSM6039899 ; COSM6039900
• MyVariant Identifiers: chrX:g.29935718_29935719insT (hg19) ; chrX:g.29935717_29935718insT (hg19) ; chrX:g.29917601_29917602insT (hg38) ; chrX:g.29917600_29917601insT (hg38)

Genomic Alleles

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

Transcript Alleles

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