Canonical Allele Identifier: CA645526289
Gene: IRF6 HGNC NCBI

Linked Data

COSMIC: COSM1744900
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209801256del , CM000663.2:g.209801256del GRCh38
NC_000001.10:g.209974601del , CM000663.1:g.209974601del GRCh37
NC_000001.9:g.208041224del NCBI36
NG_007081.2:g.9882del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.161del ENSP00000512426.1:p.Asn54IlefsTer9
ENST00000696134.1:c.161del ENSP00000512427.1:p.Asn54IlefsTer9
ENST00000367021.8:c.161del MANE Select ENSP00000355988.3:p.Asn54IlefsTer9
ENST00000643798.1:c.161del ENSP00000496669.1:p.Asn54IlefsTer9
ENST00000367021.7:c.161del ENSP00000355988.3:p.Asn54IlefsTer9
ENST00000456314.1:c.161del ENSP00000403855.1:p.Asn54IlefsTer9
ENST00000542854.5:c.-112+4694del ENSP00000440532.1:n.-112+4694del
NM_001206696.1:c.-112+4694del NP_001193625.1:n.-112+4694del
NM_006147.3:c.161del NP_006138.1:p.Asn54IlefsTer9
NM_006147.4:c.161del MANE Select NP_006138.1:p.Asn54IlefsTer9
NM_001206696.2:c.-112+4694del NP_001193625.1:n.-112+4694del
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