Canonical Allele Identifier: CA559294596

Gene: IL7R

Linked Data

• ClinVar Variation Id: 2203628
• ClinVar RCV Id: RCV002651894
• dbSNP Id: rs1387689607
• gnomAD v2: 5-35873605-GC-G
• gnomAD v4: 5-35873503-GC-G
• MyVariant Identifiers: chr5:g.35873606del (hg19) ; chr5:g.35873504del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35873504del , CM000667.2:g.35873504del	GRCh38
NC_000005.9:g.35873606del , CM000667.1:g.35873606del	GRCh37
NC_000005.8:g.35909363del	NCBI36
NG_009567.1:g.21616del , LRG_74:g.21616del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303115.8:c.562del MANE Select	ENSP00000306157.3:p.Leu188Ter
ENST00000303115.7:c.562del	ENSP00000306157.3:p.Leu188Ter
ENST00000506850.5:c.562del	ENSP00000421207.1:p.Leu188Ter
ENST00000509668.1:n.304del
ENST00000514217.5:c.538-2008del	ENSP00000427688.1:n.538-2008del
NM_002185.3:c.562del	NP_002176.2:p.Leu188Ter
NR_120485.1:n.641-2008del
XM_005248299.2:c.562del	XP_005248356.1:p.Leu188Ter
XM_005248300.1:c.562del	XP_005248357.1:p.Leu188Ter
XM_011514037.1:c.562del	XP_011512339.1:p.Leu188Ter
NM_002185.4:c.562del	NP_002176.2:p.Leu188Ter
NR_120485.2:n.667-2008del
XM_005248299.4:c.562del	XP_005248356.1:p.Leu188Ter
NM_002185.5:c.562del MANE Select	NP_002176.2:p.Leu188Ter
NR_120485.3:n.625-2008del