Canonical Allele Identifier: CA2574125183
Gene: IRF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209801225_209801226del , CM000663.2:g.209801225_209801226del GRCh38
NC_000001.10:g.209974570_209974571del , CM000663.1:g.209974570_209974571del GRCh37
NC_000001.9:g.208041193_208041194del NCBI36
NG_007081.2:g.9910_9911del

Transcript Alleles

HGVS Amino-acid change
ENST00000696133.1:c.174+15_174+16del ENSP00000512426.1:n.174+15_174+16del
ENST00000696134.1:c.174+15_174+16del ENSP00000512427.1:n.174+15_174+16del
ENST00000367021.8:c.174+15_174+16del MANE Select ENSP00000355988.3:n.174+15_174+16del
ENST00000643798.1:c.174+15_174+16del ENSP00000496669.1:n.174+15_174+16del
ENST00000367021.7:c.174+15_174+16del ENSP00000355988.3:n.174+15_174+16del
ENST00000456314.1:c.174+15_174+16del ENSP00000403855.1:n.174+15_174+16del
ENST00000542854.5:c.-111-4673_-111-4672del ENSP00000440532.1:n.-111-4673_-111-4672de...
NM_001206696.1:c.-111-4673_-111-4672del NP_001193625.1:n.-111-4673_-111-4672del
NM_006147.3:c.174+15_174+16del NP_006138.1:n.174+15_174+16del
NM_006147.4:c.174+15_174+16del MANE Select NP_006138.1:n.174+15_174+16del
NM_001206696.2:c.-111-4673_-111-4672del NP_001193625.1:n.-111-4673_-111-4672del