Canonical Allele Identifier: CA559294561

Gene: IL7R

Linked Data

• dbSNP Id: rs1561421626
• gnomAD v2: 5-35867530-GTC-G
• gnomAD v4: 5-35867428-GTC-G
• MyVariant Identifiers: chr5:g.35867531_35867532del (hg19) ; chr5:g.35867429_35867430del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35867430_35867431del , CM000667.2:g.35867430_35867431del	GRCh38
NC_000005.9:g.35867532_35867533del , CM000667.1:g.35867532_35867533del	GRCh37
NC_000005.8:g.35903289_35903290del	NCBI36
NG_009567.1:g.15542_15543del , LRG_74:g.15542_15543del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303115.8:c.346_347del MANE Select	ENSP00000306157.3:p.Leu116AsnfsTer12
ENST00000303115.7:c.346_347del	ENSP00000306157.3:p.Leu116AsnfsTer12
ENST00000506850.5:c.346_347del	ENSP00000421207.1:p.Leu116AsnfsTer12
ENST00000511031.1:n.480_481del
ENST00000511982.1:c.346_347del	ENSP00000425309.1:p.Leu116AsnfsTer12
ENST00000514217.5:c.346_347del	ENSP00000427688.1:p.Leu116AsnfsTer12
NM_002185.3:c.346_347del	NP_002176.2:p.Leu116AsnfsTer12
NR_120485.1:n.449_450del
XM_005248299.2:c.346_347del	XP_005248356.1:p.Leu116AsnfsTer12
XM_005248300.1:c.346_347del	XP_005248357.1:p.Leu116AsnfsTer12
XM_011514037.1:c.346_347del	XP_011512339.1:p.Leu116AsnfsTer12
NM_002185.4:c.346_347del	NP_002176.2:p.Leu116AsnfsTer12
NR_120485.2:n.475_476del
XM_005248299.4:c.346_347del	XP_005248356.1:p.Leu116AsnfsTer12
NM_002185.5:c.346_347del MANE Select	NP_002176.2:p.Leu116AsnfsTer12
NR_120485.3:n.433_434del