Canonical Allele Identifier: CA2580061983

Gene: IRF6

Linked Data

• ClinVar Variation Id: 2112178
• ClinVar RCV Id: RCV003034417

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209801356_209801362del , CM000663.2:g.209801356_209801362del	GRCh38
NC_000001.10:g.209974701_209974707del , CM000663.1:g.209974701_209974707del	GRCh37
NC_000001.9:g.208041324_208041330del	NCBI36
NG_007081.2:g.9777_9783del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.56_62del	ENSP00000512426.1:p.Asp19AlafsTer?
ENST00000696134.1:c.56_62del	ENSP00000512427.1:p.Asp19AlafsTer?
ENST00000367021.8:c.56_62del MANE Select	ENSP00000355988.3:p.Asp19AlafsTer?
ENST00000643798.1:c.56_62del	ENSP00000496669.1:p.Asp19AlafsTer?
ENST00000367021.7:c.56_62del	ENSP00000355988.3:p.Asp19AlafsTer?
ENST00000456314.1:c.56_62del	ENSP00000403855.1:p.Asp19AlafsTer?
ENST00000542854.5:c.-112+4589_-112+4595del	ENSP00000440532.1:n.-112+4589_-112+4595del
NM_001206696.1:c.-112+4589_-112+4595del	NP_001193625.1:n.-112+4589_-112+4595del
NM_006147.3:c.56_62del	NP_006138.1:p.Asp19AlafsTer?
NM_006147.4:c.56_62del MANE Select	NP_006138.1:p.Asp19AlafsTer?
NM_001206696.2:c.-112+4589_-112+4595del	NP_001193625.1:n.-112+4589_-112+4595del