Canonical Allele Identifier: CA2676196967

Gene: ITK

Linked Data

• gnomAD v4: 5-157241552-CTGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157241560_157241562del , CM000667.2:g.157241560_157241562del	GRCh38
NC_000005.9:g.156668570_156668572del , CM000667.1:g.156668570_156668572del	GRCh37
NC_000005.8:g.156601148_156601150del	NCBI36
NG_016276.1:g.65664_65666del , LRG_189:g.65664_65666del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696962.1:c.852-86_852-84del	ENSP00000513001.1:n.852-86_852-84del
ENST00000422843.8:c.986-86_986-84del MANE Select	ENSP00000398655.4:n.986-86_986-84del
ENST00000422843.7:c.986-86_986-84del	ENSP00000398655.3:n.986-86_986-84del
ENST00000519402.5:n.2485_2487del
ENST00000520173.1:n.104-86_104-84del
NM_005546.3:c.986-86_986-84del , LRG_189t1:c.986-86_986-84del	NP_005537.3:n.986-86_986-84del
XM_017009443.1:c.611-86_611-84del	XP_016864932.1:n.611-86_611-84del
NM_005546.4:c.986-86_986-84del MANE Select	NP_005537.3:n.986-86_986-84del