Canonical Allele Identifier: CA2499217833
Gene: IL7R HGNC NCBI

Linked Data

ClinVar Variation Id: 1114847
ClinVar RCV Id: RCV001442707
dbSNP Id: rs2149895738
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35860966_35860967delinsCT , CM000667.2:g.35860966_35860967delinsCT GRCh38
NC_000005.9:g.35861068_35861069delinsCT , CM000667.1:g.35861068_35861069delinsCT GRCh37
NC_000005.8:g.35896825_35896826delinsCT NCBI36
NG_009567.1:g.9078_9079delinsCT , LRG_74:g.9078_9079delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000303115.8:c.197_198delinsCT MANE Select ENSP00000306157.3:p.Ile66Thr
ENST00000303115.7:c.197_198delinsCT ENSP00000306157.3:p.Ile66Thr
ENST00000506850.5:c.197_198delinsCT ENSP00000421207.1:p.Ile66Thr
ENST00000511031.1:n.331_332delinsCT
ENST00000511982.1:c.197_198delinsCT ENSP00000425309.1:p.Ile66Thr
ENST00000514217.5:c.197_198delinsCT ENSP00000427688.1:p.Ile66Thr
NM_002185.3:c.197_198delinsCT NP_002176.2:p.Ile66Thr
NR_120485.1:n.300_301delinsCT
XM_005248299.2:c.197_198delinsCT XP_005248356.1:p.Ile66Thr
XM_005248300.1:c.197_198delinsCT XP_005248357.1:p.Ile66Thr
XM_011514037.1:c.197_198delinsCT XP_011512339.1:p.Ile66Thr
NM_002185.4:c.197_198delinsCT NP_002176.2:p.Ile66Thr
NR_120485.2:n.326_327delinsCT
XM_005248299.4:c.197_198delinsCT XP_005248356.1:p.Ile66Thr
NM_002185.5:c.197_198delinsCT MANE Select NP_002176.2:p.Ile66Thr
NR_120485.3:n.284_285delinsCT
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