Canonical Allele Identifier: CA130157689

Gene: ITK

Linked Data

• dbSNP Id: rs761410647
• MyVariant Identifiers: chr5:g.156668312_156668313insGGAG (hg19) ; chr5:g.157241302_157241303insGGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157241303_157241306dup , CM000667.2:g.157241303_157241306dup	GRCh38
NC_000005.9:g.156668313_156668316dup , CM000667.1:g.156668313_156668316dup	GRCh37
NC_000005.8:g.156600891_156600894dup	NCBI36
NG_016276.1:g.65407_65410dup , LRG_189:g.65407_65410dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696962.1:c.852-343_852-340dup	ENSP00000513001.1:n.852-343_852-340dup
ENST00000422843.8:c.986-343_986-340dup MANE Select	ENSP00000398655.4:n.986-343_986-340dup
ENST00000422843.7:c.986-343_986-340dup	ENSP00000398655.3:n.986-343_986-340dup
ENST00000519402.5:n.2228_2231dup
ENST00000520173.1:n.104-343_104-340dup
NM_005546.3:c.986-343_986-340dup , LRG_189t1:c.986-343_986-340dup	NP_005537.3:n.986-343_986-340dup
XM_017009443.1:c.611-343_611-340dup	XP_016864932.1:n.611-343_611-340dup
NM_005546.4:c.986-343_986-340dup MANE Select	NP_005537.3:n.986-343_986-340dup