Canonical Allele Identifier: CA1083354594

Gene: ITK

Linked Data

• dbSNP Id: rs1754892558
• gnomAD v3: 5-157241342-CTTTT-C
• gnomAD v4: 5-157241342-CTTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157241344_157241347del , CM000667.2:g.157241344_157241347del	GRCh38
NC_000005.9:g.156668354_156668357del , CM000667.1:g.156668354_156668357del	GRCh37
NC_000005.8:g.156600932_156600935del	NCBI36
NG_016276.1:g.65448_65451del , LRG_189:g.65448_65451del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696962.1:c.852-302_852-299del	ENSP00000513001.1:n.852-302_852-299del
ENST00000422843.8:c.986-302_986-299del MANE Select	ENSP00000398655.4:n.986-302_986-299del
ENST00000422843.7:c.986-302_986-299del	ENSP00000398655.3:n.986-302_986-299del
ENST00000519402.5:n.2269_2272del
ENST00000520173.1:n.104-302_104-299del
NM_005546.3:c.986-302_986-299del , LRG_189t1:c.986-302_986-299del	NP_005537.3:n.986-302_986-299del
XM_017009443.1:c.611-302_611-299del	XP_016864932.1:n.611-302_611-299del
NM_005546.4:c.986-302_986-299del MANE Select	NP_005537.3:n.986-302_986-299del