Canonical Allele Identifier: CA563672860
Gene: ITK HGNC NCBI

Linked Data

dbSNP Id: rs1368158555
gnomAD v2: 5-156668621-C-CT
gnomAD v3: 5-157241611-C-CT
gnomAD v4: 5-157241611-C-CT
MyVariant Identifiers: chr5:g.156668621_156668622insT (hg19) chr5:g.157241611_157241612insT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157241612dup , CM000667.2:g.157241612dup GRCh38
NC_000005.9:g.156668622dup , CM000667.1:g.156668622dup GRCh37
NC_000005.8:g.156601200dup NCBI36
NG_016276.1:g.65716dup , LRG_189:g.65716dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000696962.1:c.852-34dup ENSP00000513001.1:n.852-34dup
ENST00000422843.8:c.986-34dup MANE Select ENSP00000398655.4:n.986-34dup
ENST00000422843.7:c.986-34dup ENSP00000398655.3:n.986-34dup
ENST00000519402.5:n.2537dup
ENST00000519749.1:n.22dup
ENST00000520173.1:n.104-34dup
NM_005546.3:c.986-34dup , LRG_189t1:c.986-34dup NP_005537.3:n.986-34dup
XM_017009443.1:c.611-34dup XP_016864932.1:n.611-34dup
NM_005546.4:c.986-34dup MANE Select NP_005537.3:n.986-34dup
Search 100 bp 5'
Search 100 bp 3'