Canonical Allele Identifier: CA1146650349

Gene: IRF6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209786148_209786156delinsGAAAGGAAA , CM000663.2:g.209786148_209786156delinsGAAAGGAAA	GRCh38
NC_000001.10:g.209959493_209959501delinsGAAAGGAAA , CM000663.1:g.209959493_209959501delinsGAAAGGAAA	GRCh37
NC_000001.9:g.208026116_208026124delinsGAAAGGAAA	NCBI36
NG_007081.2:g.24979_24987delinsTTTCCTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.1400+2268_1400+2276delinsTTTCCTTTC	ENSP00000512426.1:n.1400+2268_1400+2276delinsTTTCCTTTC
ENST00000696134.1:c.*3095_*3103delinsTTTCCTTTC	ENSP00000512427.1:n.*3095_*3103delinsTTTCCTTTC
ENST00000367021.8:c.*2264_*2272delinsTTTCCTTTC MANE Select	ENSP00000355988.3:n.*2264_*2272delinsTTTCCTTTC
ENST00000367021.7:c.*2264_*2272delinsTTTCCTTTC	ENSP00000355988.3:n.*2264_*2272delinsTTTCCTTTC
ENST00000542854.5:c.*2264_*2272delinsTTTCCTTTC	ENSP00000440532.1:n.*2264_*2272delinsTTTCCTTTC
NM_001206696.1:c.*2264_*2272delinsTTTCCTTTC	NP_001193625.1:n.*2264_*2272delinsTTTCCTTTC
NM_006147.3:c.*2264_*2272delinsTTTCCTTTC	NP_006138.1:n.*2264_*2272delinsTTTCCTTTC
NM_006147.4:c.*2264_*2272delinsTTTCCTTTC MANE Select	NP_006138.1:n.*2264_*2272delinsTTTCCTTTC
NM_001206696.2:c.*2264_*2272delinsTTTCCTTTC	NP_001193625.1:n.*2264_*2272delinsTTTCCTTTC