Canonical Allele Identifier: CA2586964586
Gene: IRF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209801315dup , CM000663.2:g.209801315dup GRCh38
NC_000001.10:g.209974660dup , CM000663.1:g.209974660dup GRCh37
NC_000001.9:g.208041283dup NCBI36
NG_007081.2:g.9820dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.99dup ENSP00000512426.1:p.Lys34Ter
ENST00000696134.1:c.99dup ENSP00000512427.1:p.Lys34Ter
ENST00000367021.8:c.99dup MANE Select ENSP00000355988.3:p.Lys34Ter
ENST00000643798.1:c.99dup ENSP00000496669.1:p.Lys34Ter
ENST00000367021.7:c.99dup ENSP00000355988.3:p.Lys34Ter
ENST00000456314.1:c.99dup ENSP00000403855.1:p.Lys34Ter
ENST00000542854.5:c.-112+4632dup ENSP00000440532.1:n.-112+4632dup
NM_001206696.1:c.-112+4632dup NP_001193625.1:n.-112+4632dup
NM_006147.3:c.99dup NP_006138.1:p.Lys34Ter
NM_006147.4:c.99dup MANE Select NP_006138.1:p.Lys34Ter
NM_001206696.2:c.-112+4632dup NP_001193625.1:n.-112+4632dup