Canonical Allele Identifier: CA917617657

Gene: ITK

Linked Data

• dbSNP Id: rs1580906421
• gnomAD v3: 5-157241398-AATTAT-A
• gnomAD v4: 5-157241398-AATTAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157241406_157241410del , CM000667.2:g.157241406_157241410del	GRCh38
NC_000005.9:g.156668416_156668420del , CM000667.1:g.156668416_156668420del	GRCh37
NC_000005.8:g.156600994_156600998del	NCBI36
NG_016276.1:g.65510_65514del , LRG_189:g.65510_65514del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696962.1:c.852-240_852-236del	ENSP00000513001.1:n.852-240_852-236del
ENST00000422843.8:c.986-240_986-236del MANE Select	ENSP00000398655.4:n.986-240_986-236del
ENST00000422843.7:c.986-240_986-236del	ENSP00000398655.3:n.986-240_986-236del
ENST00000519402.5:n.2331_2335del
ENST00000520173.1:n.104-240_104-236del
NM_005546.3:c.986-240_986-236del , LRG_189t1:c.986-240_986-236del	NP_005537.3:n.986-240_986-236del
XM_017009443.1:c.611-240_611-236del	XP_016864932.1:n.611-240_611-236del
NM_005546.4:c.986-240_986-236del MANE Select	NP_005537.3:n.986-240_986-236del