Canonical Allele Identifier: CA559294573

Gene: IL7R

Linked Data

• dbSNP Id: rs1326385354
• gnomAD v2: 5-35867631-A-AT
• gnomAD v4: 5-35867529-A-AT
• MyVariant Identifiers: chr5:g.35867631_35867632insT (hg19) ; chr5:g.35867529_35867530insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35867531dup , CM000667.2:g.35867531dup	GRCh38
NC_000005.9:g.35867633dup , CM000667.1:g.35867633dup	GRCh37
NC_000005.8:g.35903390dup	NCBI36
NG_009567.1:g.15643dup , LRG_74:g.15643dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303115.8:c.379+68dup MANE Select	ENSP00000306157.3:n.379+68dup
ENST00000303115.7:c.379+68dup	ENSP00000306157.3:n.379+68dup
ENST00000506850.5:c.379+68dup	ENSP00000421207.1:n.379+68dup
ENST00000511982.1:c.447dup	ENSP00000425309.1:p.Leu150SerfsTer4
ENST00000514217.5:c.379+68dup	ENSP00000427688.1:n.379+68dup
NM_002185.3:c.379+68dup	NP_002176.2:n.379+68dup
NR_120485.1:n.482+68dup
XM_005248299.2:c.379+68dup	XP_005248356.1:n.379+68dup
XM_005248300.1:c.379+68dup	XP_005248357.1:n.379+68dup
XM_011514037.1:c.379+68dup	XP_011512339.1:n.379+68dup
NM_002185.4:c.379+68dup	NP_002176.2:n.379+68dup
NR_120485.2:n.508+68dup
XM_005248299.4:c.379+68dup	XP_005248356.1:n.379+68dup
NM_002185.5:c.379+68dup MANE Select	NP_002176.2:n.379+68dup
NR_120485.3:n.466+68dup