Canonical Allele Identifier: CA2693367420
Gene: IL1RAPL1 HGNC NCBI

Linked Data

gnomAD v4: X-29917545-A-AAAAATTTATTGAAGATCT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.29917546_29917563dup , CM000685.2:g.29917546_29917563dup GRCh38
NC_000023.10:g.29935663_29935680dup , CM000685.1:g.29935663_29935680dup GRCh37
NC_000023.9:g.29845584_29845601dup NCBI36
NG_008292.1:g.1334983_1335000dup
NG_008292.2:g.1334983_1335000dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378993.6:c.861_878dup MANE Select ENSP00000368278.1:p.Leu293_Asp294insLysPheIleGluAspLeu
ENST00000302196.5:c.84_101dup ENSP00000305200.5:p.Leu34_Asp35insLysPheIleGluAspLeu
ENST00000378993.5:c.861_878dup ENSP00000368278.1:p.Leu293_Asp294insLysPheIleGluAspLeu
NM_014271.3:c.861_878dup NP_055086.1:p.Leu293_Asp294insLysPheIleGluAspLeu
XM_005274441.1:c.861_878dup XP_005274498.1:p.Leu293_Asp294insLysPheIleGluAspLeu
XM_011545445.1:c.861_878dup XP_011543747.1:p.Leu293_Asp294insLysPheIleGluAspLeu
XM_017029240.1:c.861_878dup XP_016884729.1:p.Leu293_Asp294insLysPheIleGluAspLeu
XM_017029241.1:c.483_500dup XP_016884730.1:p.Leu167_Asp168insLysPheIleGluAspLeu
NM_014271.4:c.861_878dup MANE Select NP_055086.1:p.Leu293_Asp294insLysPheIleGluAspLeu
Search 100 bp 5'
Search 100 bp 3'