Canonical Allele Identifier: CA2619697995
Gene: IRAK3 HGNC NCBI

Linked Data

gnomAD v4: 12-66203811-G-GA
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.66203816dup , CM000674.2:g.66203816dup GRCh38
NC_000012.11:g.66597596dup , CM000674.1:g.66597596dup GRCh37
NC_000012.10:g.64883863dup NCBI36
NG_021194.1:g.19619dup

Transcript Alleles

HGVS Amino-acid change
ENST00000261233.9:c.239dup MANE Select ENSP00000261233.4:p.Asn80LysfsTer6
ENST00000261233.8:c.239dup ENSP00000261233.4:p.Asn80LysfsTer6
ENST00000457197.2:c.134-5640dup ENSP00000409852.2:n.134-5640dup
NM_001142523.1:c.134-5640dup NP_001135995.1:n.134-5640dup
NM_007199.2:c.239dup NP_009130.2:p.Asn80LysfsTer6
NM_001142523.2:c.134-5640dup NP_001135995.1:n.134-5640dup
NM_007199.3:c.239dup MANE Select NP_009130.2:p.Asn80LysfsTer6
Search 100 bp 5'
Search 100 bp 3'