Canonical Allele Identifier: CA806220373

Gene: ITK

Linked Data

• dbSNP Id: rs1177930188
• gnomAD v3: 5-157241366-AAT-A
• gnomAD v4: 5-157241366-AAT-A
• MyVariant Identifiers: chr5:g.156668377_156668378del (hg19) ; chr5:g.157241367_157241368del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157241370_157241371del , CM000667.2:g.157241370_157241371del	GRCh38
NC_000005.9:g.156668380_156668381del , CM000667.1:g.156668380_156668381del	GRCh37
NC_000005.8:g.156600958_156600959del	NCBI36
NG_016276.1:g.65474_65475del , LRG_189:g.65474_65475del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696962.1:c.852-276_852-275del	ENSP00000513001.1:n.852-276_852-275del
ENST00000422843.8:c.986-276_986-275del MANE Select	ENSP00000398655.4:n.986-276_986-275del
ENST00000422843.7:c.986-276_986-275del	ENSP00000398655.3:n.986-276_986-275del
ENST00000519402.5:n.2295_2296del
ENST00000520173.1:n.104-276_104-275del
NM_005546.3:c.986-276_986-275del , LRG_189t1:c.986-276_986-275del	NP_005537.3:n.986-276_986-275del
XM_017009443.1:c.611-276_611-275del	XP_016864932.1:n.611-276_611-275del
NM_005546.4:c.986-276_986-275del MANE Select	NP_005537.3:n.986-276_986-275del