Canonical Allele Identifier: CA2650336213
Gene: IRF6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209801201_209801205del , CM000663.2:g.209801201_209801205del GRCh38
NC_000001.10:g.209974546_209974550del , CM000663.1:g.209974546_209974550del GRCh37
NC_000001.9:g.208041169_208041173del NCBI36
NG_007081.2:g.9930_9934del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.174+35_174+39del ENSP00000512426.1:n.174+35_174+39del
ENST00000696134.1:c.174+35_174+39del ENSP00000512427.1:n.174+35_174+39del
ENST00000367021.8:c.174+35_174+39del MANE Select ENSP00000355988.3:n.174+35_174+39del
ENST00000643798.1:c.174+35_174+39del ENSP00000496669.1:n.174+35_174+39del
ENST00000367021.7:c.174+35_174+39del ENSP00000355988.3:n.174+35_174+39del
ENST00000456314.1:c.174+35_174+39del ENSP00000403855.1:n.174+35_174+39del
ENST00000542854.5:c.-111-4653_-111-4649del ENSP00000440532.1:n.-111-4653_-111-4649del
NM_001206696.1:c.-111-4653_-111-4649del NP_001193625.1:n.-111-4653_-111-4649del
NM_006147.3:c.174+35_174+39del NP_006138.1:n.174+35_174+39del
NM_006147.4:c.174+35_174+39del MANE Select NP_006138.1:n.174+35_174+39del
NM_001206696.2:c.-111-4653_-111-4649del NP_001193625.1:n.-111-4653_-111-4649del