Canonical Allele Identifier: CA238321020
Gene: IRAK3 HGNC NCBI

Linked Data

dbSNP Id: rs774538668
gnomAD v2: 12-66644146-AAAG-A
gnomAD v3: 12-66250366-AAAG-A
gnomAD v4: 12-66250366-AAAG-A
MyVariant Identifiers: chr12:g.66644147_66644149del (hg19) chr12:g.66250367_66250369del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.66250372_66250374del , CM000674.2:g.66250372_66250374del GRCh38
NC_000012.11:g.66644152_66644154del , CM000674.1:g.66644152_66644154del GRCh37
NC_000012.10:g.64930419_64930421del NCBI36
NG_021194.1:g.66175_66177del

Transcript Alleles

HGVS Amino-acid change
ENST00000261233.9:c.*2201_*2203del MANE Select ENSP00000261233.4:n.*2201_*2203del
ENST00000261233.8:c.*2201_*2203del ENSP00000261233.4:n.*2201_*2203del
NM_001142523.1:c.*2201_*2203del NP_001135995.1:n.*2201_*2203del
NM_007199.2:c.*2201_*2203del NP_009130.2:n.*2201_*2203del
NM_001142523.2:c.*2201_*2203del NP_001135995.1:n.*2201_*2203del
NM_007199.3:c.*2201_*2203del MANE Select NP_009130.2:n.*2201_*2203del
Search 100 bp 5'
Search 100 bp 3'