Canonical Allele Identifier: CA2693367431
Gene: IL1RAPL1 HGNC NCBI

Linked Data

gnomAD v4: X-29917636-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.29917636C>A , CM000685.2:g.29917636C>A GRCh38
NC_000023.10:g.29935753C>A , CM000685.1:g.29935753C>A GRCh37
NC_000023.9:g.29845674C>A NCBI36
NG_008292.1:g.1335073C>A
NG_008292.2:g.1335073C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378993.6:c.911+40C>A MANE Select ENSP00000368278.1:n.911+40C>A
ENST00000302196.5:c.134+40C>A ENSP00000305200.5:n.134+40C>A
ENST00000378993.5:c.911+40C>A ENSP00000368278.1:n.911+40C>A
NM_014271.3:c.911+40C>A NP_055086.1:n.911+40C>A
XM_005274441.1:c.911+40C>A XP_005274498.1:n.911+40C>A
XM_011545445.1:c.911+40C>A XP_011543747.1:n.911+40C>A
XM_017029240.1:c.911+40C>A XP_016884729.1:n.911+40C>A
XM_017029241.1:c.533+40C>A XP_016884730.1:n.533+40C>A
NM_014271.4:c.911+40C>A MANE Select NP_055086.1:n.911+40C>A
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