Canonical Allele Identifier: CA16042242
Gene: IL17RA HGNC NCBI

Linked Data

dbSNP Id: rs1057518747
gnomAD v4: 22-17103494-CCCAGA-C
MyVariant Identifiers: chr22:g.17584390_17584394del (hg19) chr22:g.17103500_17103504del (hg38)
PubMed: PMID:27930337
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.17103500_17103504del , CM000684.2:g.17103500_17103504del GRCh38
NC_000022.10:g.17584390_17584394del , CM000684.1:g.17584390_17584394del GRCh37
NC_000022.9:g.15964390_15964394del NCBI36
NG_028257.1:g.23540_23544del , LRG_355:g.23540_23544del

Transcript Alleles

HGVS Amino-acid change
ENST00000612619.2:c.769_773del ENSP00000479970.1:p.Pro257ArgfsTer16
ENST00000694950.1:c.663_667del
ENST00000694951.1:n.727_731del
ENST00000319363.11:c.769_773del MANE Select ENSP00000320936.6:p.Pro257ArgfsTer16
ENST00000319363.10:c.769_773del ENSP00000320936.6:p.Pro257ArgfsTer16
ENST00000612619.1:c.769_773del ENSP00000479970.1:p.Pro257ArgfsTer16
NM_001289905.1:c.769_773del NP_001276834.1:p.Pro257ArgfsTer16
NM_014339.6:c.769_773del , LRG_355t1:c.769_773del NP_055154.3:p.Pro257ArgfsTer16
NM_014339.7:c.769_773del MANE Select NP_055154.3:p.Pro257ArgfsTer16
NM_001289905.2:c.769_773del NP_001276834.1:p.Pro257ArgfsTer16
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