Canonical Allele Identifier: CA2520656444

Gene: IRF6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209788435_209788436insAA , CM000663.2:g.209788435_209788436insAA	GRCh38
NC_000001.10:g.209961780_209961781insAA , CM000663.1:g.209961780_209961781insAA	GRCh37
NC_000001.9:g.208028403_208028404insAA	NCBI36
NG_007081.2:g.22699_22700insTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.1388_1389insTT	ENSP00000512426.1:p.Leu464SerfsTer?
ENST00000696134.1:c.*815_*816insTT	ENSP00000512427.1:n.*815_*816insTT
ENST00000367021.8:c.1388_1389insTT MANE Select	ENSP00000355988.3:p.Leu464SerfsTer28
ENST00000643798.1:c.*898_*899insTT	ENSP00000496669.1:n.*898_*899insTT
ENST00000367021.7:c.1388_1389insTT	ENSP00000355988.3:p.Leu464SerfsTer28
ENST00000542854.5:c.1103_1104insTT	ENSP00000440532.1:p.Leu369SerfsTer28
NM_001206696.1:c.1103_1104insTT	NP_001193625.1:p.Leu369SerfsTer28
NM_006147.3:c.1388_1389insTT	NP_006138.1:p.Leu464SerfsTer28
NM_006147.4:c.1388_1389insTT MANE Select	NP_006138.1:p.Leu464SerfsTer28
NM_001206696.2:c.1103_1104insTT	NP_001193625.1:p.Leu369SerfsTer28