Canonical Allele Identifier: CA2747565568
Gene: IRF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209801205_209801210del , CM000663.2:g.209801205_209801210del GRCh38
NC_000001.10:g.209974550_209974555del , CM000663.1:g.209974550_209974555del GRCh37
NC_000001.9:g.208041173_208041178del NCBI36
NG_007081.2:g.9926_9931del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.174+31_174+36del ENSP00000512426.1:n.174+31_174+36del
ENST00000696134.1:c.174+31_174+36del ENSP00000512427.1:n.174+31_174+36del
ENST00000367021.8:c.174+31_174+36del MANE Select ENSP00000355988.3:n.174+31_174+36del
ENST00000643798.1:c.174+31_174+36del ENSP00000496669.1:n.174+31_174+36del
ENST00000367021.7:c.174+31_174+36del ENSP00000355988.3:n.174+31_174+36del
ENST00000456314.1:c.174+31_174+36del ENSP00000403855.1:n.174+31_174+36del
ENST00000542854.5:c.-111-4657_-111-4652del ENSP00000440532.1:n.-111-4657_-111-4652del
NM_001206696.1:c.-111-4657_-111-4652del NP_001193625.1:n.-111-4657_-111-4652del
NM_006147.3:c.174+31_174+36del NP_006138.1:n.174+31_174+36del
NM_006147.4:c.174+31_174+36del MANE Select NP_006138.1:n.174+31_174+36del
NM_001206696.2:c.-111-4657_-111-4652del NP_001193625.1:n.-111-4657_-111-4652del