Canonical Allele Identifier: CA2676196891
Gene: ITK HGNC NCBI

Linked Data

gnomAD v4: 5-157241454-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157241454C>G , CM000667.2:g.157241454C>G GRCh38
NC_000005.9:g.156668464C>G , CM000667.1:g.156668464C>G GRCh37
NC_000005.8:g.156601042C>G NCBI36
NG_016276.1:g.65558C>G , LRG_189:g.65558C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696962.1:c.852-192C>G ENSP00000513001.1:n.852-192C>G
ENST00000422843.8:c.986-192C>G MANE Select ENSP00000398655.4:n.986-192C>G
ENST00000422843.7:c.986-192C>G ENSP00000398655.3:n.986-192C>G
ENST00000519402.5:n.2379C>G
ENST00000520173.1:n.104-192C>G
NM_005546.3:c.986-192C>G , LRG_189t1:c.986-192C>G NP_005537.3:n.986-192C>G
XM_017009443.1:c.611-192C>G XP_016864932.1:n.611-192C>G
NM_005546.4:c.986-192C>G MANE Select NP_005537.3:n.986-192C>G
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