Allele Registry

Canonical Allele Identifier: CA236441

Gene: IL7R HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr5:g.35875991del

GRCh37 chr5:g.35876093del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000171518

RCV003989488

ClinVar Variation:

191326

dbSNP:

786205646

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35875991del , CM000667.2:g.35875991del	GRCh38
NC_000005.9:g.35876093del , CM000667.1:g.35876093del	GRCh37
NC_000005.8:g.35911850del	NCBI36
NG_009567.1:g.24103del , LRG_74:g.24103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303115.8:c.885del MANE Select	ENSP00000306157.3:p.Asn295LysfsTer2
ENST00000303115.7:c.885del	ENSP00000306157.3:p.Asn295LysfsTer2
ENST00000505093.1:c.200del	ENSP00000426069.1:n.200del
ENST00000505875.1:n.183del
ENST00000514217.5:c.*79del	ENSP00000427688.1:n.*79del
NM_002185.3:c.885del	NP_002176.2:p.Asn295LysfsTer2
NR_120485.1:n.725del
XM_005248299.2:c.*2del	XP_005248356.1:n.*2del
NM_002185.4:c.885del	NP_002176.2:p.Asn295LysfsTer2
NR_120485.2:n.751del
XM_005248299.4:c.*2del	XP_005248356.1:n.*2del
NM_002185.5:c.885del MANE Select	NP_002176.2:p.Asn295LysfsTer2
NR_120485.3:n.709del

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