Canonical Allele Identifier: CA2673534951
Gene: IL7R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35867461_35867462del , CM000667.2:g.35867461_35867462del GRCh38
NC_000005.9:g.35867563_35867564del , CM000667.1:g.35867563_35867564del GRCh37
NC_000005.8:g.35903320_35903321del NCBI36
NG_009567.1:g.15573_15574del , LRG_74:g.15573_15574del

Transcript Alleles

HGVS Amino-acid Change
ENST00000303115.8:c.377_378del MANE Select ENSP00000306157.3:p.Ile126SerfsTer2
ENST00000303115.7:c.377_378del ENSP00000306157.3:p.Ile126SerfsTer2
ENST00000506850.5:c.377_378del ENSP00000421207.1:p.Ile126SerfsTer2
ENST00000511031.1:n.511_512del
ENST00000511982.1:c.377_378del ENSP00000425309.1:p.Ile126ArgfsTer2
ENST00000514217.5:c.377_378del ENSP00000427688.1:p.Ile126SerfsTer2
NM_002185.3:c.377_378del NP_002176.2:p.Ile126SerfsTer2
NR_120485.1:n.480_481del
XM_005248299.2:c.377_378del XP_005248356.1:p.Ile126SerfsTer2
XM_005248300.1:c.377_378del XP_005248357.1:p.Ile126SerfsTer2
XM_011514037.1:c.377_378del XP_011512339.1:p.Ile126SerfsTer2
NM_002185.4:c.377_378del NP_002176.2:p.Ile126SerfsTer2
NR_120485.2:n.506_507del
XM_005248299.4:c.377_378del XP_005248356.1:p.Ile126SerfsTer2
NM_002185.5:c.377_378del MANE Select NP_002176.2:p.Ile126SerfsTer2
NR_120485.3:n.464_465del