Canonical Allele Identifier: CA1139667347

Gene: IL1RAPL1

Linked Data

• ClinVar Variation Id: 981355
• ClinVar RCV Id: RCV001260739
• dbSNP Id: rs1933958646

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.29399302_29399303del , CM000685.2:g.29399302_29399303del	GRCh38
NC_000023.10:g.29417419_29417420del , CM000685.1:g.29417419_29417420del	GRCh37
NC_000023.9:g.29327340_29327341del	NCBI36
NG_008292.1:g.816739_816740del
NG_008292.2:g.816739_816740del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378993.6:c.697_698del MANE Select	ENSP00000368278.1:p.Val233TyrfsTer6
ENST00000378993.5:c.697_698del	ENSP00000368278.1:p.Val233TyrfsTer6
NM_014271.3:c.697_698del	NP_055086.1:p.Val233TyrfsTer6
XM_005274441.1:c.697_698del	XP_005274498.1:p.Val233TyrfsTer6
XM_011545445.1:c.697_698del	XP_011543747.1:p.Val233TyrfsTer6
XM_017029240.1:c.697_698del	XP_016884729.1:p.Val233TyrfsTer6
XM_017029241.1:c.319_320del	XP_016884730.1:p.Val107TyrfsTer6
NM_014271.4:c.697_698del MANE Select	NP_055086.1:p.Val233TyrfsTer6