Canonical Allele Identifier: CA2747565583
Community Standard Title: NM_006147.4(IRF6):c.-3-11_-3-10insGAC
Gene: IRF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209801426_209801427insGTC , CM000663.2:g.209801426_209801427insGTC GRCh38
NC_000001.10:g.209974771_209974772insGTC , CM000663.1:g.209974771_209974772insGTC GRCh37
NC_000001.9:g.208041394_208041395insGTC NCBI36
NG_007081.2:g.9708_9709insGAC

Transcript Alleles

HGVS Amino-acid Change
NM_006147.4:c.-3-11_-3-10insGAC MANE Select NP_006138.1:n.-3-11_-3-10insGAC
ENST00000367021.8:c.-3-11_-3-10insGAC MANE Select ENSP00000355988.3:n.-3-11_-3-10insGAC
NM_001206696.1:c.-112+4520_-112+4521insGAC NP_001193625.1:n.-112+4520_-112+4521insGAC
NM_001206696.2:c.-112+4520_-112+4521insGAC NP_001193625.1:n.-112+4520_-112+4521insGAC
NM_006147.3:c.-3-11_-3-10insGAC NP_006138.1:n.-3-11_-3-10insGAC
ENST00000367021.7:c.-3-11_-3-10insGAC ENSP00000355988.3:n.-3-11_-3-10insGAC
ENST00000456314.1:c.-3-11_-3-10insGAC ENSP00000403855.1:n.-3-11_-3-10insGAC
ENST00000542854.5:c.-112+4520_-112+4521insGAC ENSP00000440532.1:n.-112+4520_-112+4521insGAC
ENST00000643798.1:c.-3-11_-3-10insGAC ENSP00000496669.1:n.-3-11_-3-10insGAC
ENST00000696133.1:c.-3-11_-3-10insGAC ENSP00000512426.1:n.-3-11_-3-10insGAC
ENST00000696134.1:c.-3-11_-3-10insGAC ENSP00000512427.1:n.-3-11_-3-10insGAC