Canonical Allele Identifier: CA3532666
Gene: ITK HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.157209006del
GRCh37 chr5:g.156636017del
gnomAD v2:
5:156636016 AG / A
gnomAD v3:
5:157209005 AG / A
gnomAD v4:
chr5-157209005-AG-A
Joint Max Group AF 0.00001769 (AFR)
Exomes Max Group AF 0.00002473 (AFR)
ClinVar RCV:
RCV003874049
ClinVar Variation:
3015962
dbSNP:
759525228
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157209007del , CM000667.2:g.157209007del GRCh38
NC_000005.9:g.156636018del , CM000667.1:g.156636018del GRCh37
NC_000005.8:g.156568596del NCBI36
NG_016276.1:g.33112del , LRG_189:g.33112del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696962.1:c.243+14del ENSP00000513001.1:n.243+14del
ENST00000422843.8:c.243+14del MANE Select ENSP00000398655.4:n.243+14del
ENST00000422843.7:c.243+14del ENSP00000398655.3:n.243+14del
ENST00000517779.1:c.243+14del ENSP00000431054.1:n.243+14del
ENST00000519402.5:n.378+14del
ENST00000520555.5:n.381+14del
ENST00000521769.5:c.-133+14del ENSP00000430327.1:n.-133+14del
NM_005546.3:c.243+14del , LRG_189t1:c.243+14del NP_005537.3:n.243+14del
NM_005546.4:c.243+14del MANE Select NP_005537.3:n.243+14del
Search 100 bp 5'
Search 100 bp 3'