Canonical Allele Identifier: CA1377312

Gene: IRF6

Linked Data

• dbSNP Id: rs755129636
• ExAC: 1:209968600 CAT / C
• gnomAD v2: 1-209968600-CAT-C
• gnomAD v3: 1-209795255-CAT-C
• gnomAD v4: 1-209795255-CAT-C
• MyVariant Identifiers: chr1:g.209968601_209968602del (hg19) ; chr1:g.209795257_209795258del (hg38) ; chr1:g.209795256_209795257del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209795258_209795259del , CM000663.2:g.209795258_209795259del	GRCh38
NC_000001.10:g.209968603_209968604del , CM000663.1:g.209968603_209968604del	GRCh37
NC_000001.9:g.208035226_208035227del	NCBI36
NG_007081.2:g.15878_15879del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.508+33_508+34del	ENSP00000512426.1:n.508+33_508+34del
ENST00000696134.1:c.508+33_508+34del	ENSP00000512427.1:n.508+33_508+34del
ENST00000367021.8:c.508+33_508+34del MANE Select	ENSP00000355988.3:n.508+33_508+34del
ENST00000643798.1:c.508+33_508+34del	ENSP00000496669.1:n.508+33_508+34del
ENST00000367021.7:c.508+33_508+34del	ENSP00000355988.3:n.508+33_508+34del
ENST00000456314.1:c.508+33_508+34del	ENSP00000403855.1:n.508+33_508+34del
ENST00000542854.5:c.223+33_223+34del	ENSP00000440532.1:n.223+33_223+34del
NM_001206696.1:c.223+33_223+34del	NP_001193625.1:n.223+33_223+34del
NM_006147.3:c.508+33_508+34del	NP_006138.1:n.508+33_508+34del
NM_006147.4:c.508+33_508+34del MANE Select	NP_006138.1:n.508+33_508+34del
NM_001206696.2:c.223+33_223+34del	NP_001193625.1:n.223+33_223+34del