Canonical Allele Identifier: CA2579736187
Gene: IRAK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154013290_154013291insTC , CM000685.2:g.154013290_154013291insTC GRCh38
NC_000023.10:g.153278741_153278742insTC , CM000685.1:g.153278741_153278742insTC GRCh37
NC_000023.9:g.152931935_152931936insTC NCBI36
NG_008387.1:g.11602_11603insAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000467236.2:n.463_464insAG
ENST00000699980.1:n.1227_1228insAG
ENST00000369980.8:c.1683_1684insAG MANE Select ENSP00000358997.3:p.Gln562SerfsTer?
ENST00000369973.7:c.*626_*627insAG ENSP00000358990.3:n.*626_*627insAG
ENST00000369974.6:c.1446_1447insAG ENSP00000358991.2:p.Gln483SerfsTer?
ENST00000369980.7:c.1683_1684insAG ENSP00000358997.3:p.Gln562SerfsTer?
ENST00000393687.6:c.1593_1594insAG ENSP00000377291.2:p.Gln532SerfsTer?
ENST00000429936.6:c.1671_1672insAG ENSP00000392662.2:p.Gln558SerfsTer?
ENST00000437278.5:c.374_375insAG
ENST00000443220.1:c.928_929insAG
ENST00000444230.5:c.529-2174_529-2173insAG ENSP00000399974.1:n.529-2174_529-2173insAG
ENST00000444254.1:c.349_350insAG
ENST00000455690.5:c.280-612_280-611insAG ENSP00000411809.1:n.280-612_280-611insAG
ENST00000477274.1:n.616-2479_616-2478insAG
NM_001025242.1:c.1593_1594insAG NP_001020413.1:p.Gln532SerfsTer?
NM_001025243.1:c.1446_1447insAG NP_001020414.1:p.Gln483SerfsTer?
NM_001569.3:c.1683_1684insAG NP_001560.2:p.Gln562SerfsTer?
XM_005274668.2:c.1671_1672insAG XP_005274725.1:p.Gln558SerfsTer?
XM_011531158.1:c.1356_1357insAG XP_011529460.1:p.Gln453SerfsTer?
XM_005274668.4:c.1671_1672insAG XP_005274725.1:p.Gln558SerfsTer?
NM_001569.4:c.1683_1684insAG MANE Select NP_001560.2:p.Gln562SerfsTer?
NM_001025242.2:c.1593_1594insAG NP_001020413.1:p.Gln532SerfsTer?
NM_001025243.2:c.1446_1447insAG NP_001020414.1:p.Gln483SerfsTer?