Canonical Allele Identifier: CA605708695

Gene: IRAK3

Linked Data

• dbSNP Id: rs1454565207
• gnomAD v2: 12-66597491-CAG-C
• gnomAD v4: 12-66203711-CAG-C
• MyVariant Identifiers: chr12:g.66597492_66597493del (hg19) ; chr12:g.66203712_66203713del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.66203717_66203718del , CM000674.2:g.66203717_66203718del	GRCh38
NC_000012.11:g.66597497_66597498del , CM000674.1:g.66597497_66597498del	GRCh37
NC_000012.10:g.64883764_64883765del	NCBI36
NG_021194.1:g.19520_19521del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261233.9:c.140_141del MANE Select	ENSP00000261233.4:p.Arg47ThrfsTer12
ENST00000261233.8:c.140_141del	ENSP00000261233.4:p.Arg47ThrfsTer12
ENST00000457197.2:c.134-5739_134-5738del	ENSP00000409852.2:n.134-5739_134-5738del
NM_001142523.1:c.134-5739_134-5738del	NP_001135995.1:n.134-5739_134-5738del
NM_007199.2:c.140_141del	NP_009130.2:p.Arg47ThrfsTer12
NM_001142523.2:c.134-5739_134-5738del	NP_001135995.1:n.134-5739_134-5738del
NM_007199.3:c.140_141del MANE Select	NP_009130.2:p.Arg47ThrfsTer12