Canonical Allele Identifier: CA2676196979

Gene: ITK

Linked Data

• gnomAD v4: 5-157241564-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157241566dup , CM000667.2:g.157241566dup	GRCh38
NC_000005.9:g.156668576dup , CM000667.1:g.156668576dup	GRCh37
NC_000005.8:g.156601154dup	NCBI36
NG_016276.1:g.65670dup , LRG_189:g.65670dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696962.1:c.852-80dup	ENSP00000513001.1:n.852-80dup
ENST00000422843.8:c.986-80dup MANE Select	ENSP00000398655.4:n.986-80dup
ENST00000422843.7:c.986-80dup	ENSP00000398655.3:n.986-80dup
ENST00000519402.5:n.2491dup
ENST00000520173.1:n.104-80dup
NM_005546.3:c.986-80dup , LRG_189t1:c.986-80dup	NP_005537.3:n.986-80dup
XM_017009443.1:c.611-80dup	XP_016864932.1:n.611-80dup
NM_005546.4:c.986-80dup MANE Select	NP_005537.3:n.986-80dup