Canonical Allele Identifier: CA2993732276
Community Standard Title: NM_006147.4(IRF6):c.-3-4_-3-3del
Gene: IRF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209801424_209801425del , CM000663.2:g.209801424_209801425del GRCh38
NC_000001.10:g.209974769_209974770del , CM000663.1:g.209974769_209974770del GRCh37
NC_000001.9:g.208041392_208041393del NCBI36
NG_007081.2:g.9715_9716del

Transcript Alleles

HGVS Amino-acid Change
NM_006147.4:c.-3-4_-3-3del MANE Select NP_006138.1:n.-3-4_-3-3del
ENST00000367021.8:c.-3-4_-3-3del MANE Select ENSP00000355988.3:n.-3-4_-3-3del
NM_001206696.1:c.-112+4527_-112+4528del NP_001193625.1:n.-112+4527_-112+4528del
NM_001206696.2:c.-112+4527_-112+4528del NP_001193625.1:n.-112+4527_-112+4528del
NM_006147.3:c.-3-4_-3-3del NP_006138.1:n.-3-4_-3-3del
ENST00000367021.7:c.-3-4_-3-3del ENSP00000355988.3:n.-3-4_-3-3del
ENST00000456314.1:c.-3-4_-3-3del ENSP00000403855.1:n.-3-4_-3-3del
ENST00000542854.5:c.-112+4527_-112+4528del ENSP00000440532.1:n.-112+4527_-112+4528del
ENST00000643798.1:c.-3-4_-3-3del ENSP00000496669.1:n.-3-4_-3-3del
ENST00000696133.1:c.-3-4_-3-3del ENSP00000512426.1:n.-3-4_-3-3del
ENST00000696134.1:c.-3-4_-3-3del ENSP00000512427.1:n.-3-4_-3-3del