Canonical Allele Identifier: CA2579576844
Gene: IL1RAPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.29917516del , CM000685.2:g.29917516del GRCh38
NC_000023.10:g.29935633del , CM000685.1:g.29935633del GRCh37
NC_000023.9:g.29845554del NCBI36
NG_008292.1:g.1334953del
NG_008292.2:g.1334953del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378993.6:c.831del MANE Select ENSP00000368278.1:p.Ser278ValfsTer3
ENST00000302196.5:c.54del ENSP00000305200.5:p.Ser19ValfsTer3
ENST00000378993.5:c.831del ENSP00000368278.1:p.Ser278ValfsTer3
NM_014271.3:c.831del NP_055086.1:p.Ser278ValfsTer3
XM_005274441.1:c.831del XP_005274498.1:p.Ser278ValfsTer3
XM_011545445.1:c.831del XP_011543747.1:p.Ser278ValfsTer3
XM_017029240.1:c.831del XP_016884729.1:p.Ser278ValfsTer3
XM_017029241.1:c.453del XP_016884730.1:p.Ser152ValfsTer3
NM_014271.4:c.831del MANE Select NP_055086.1:p.Ser278ValfsTer3