Canonical Allele Identifier: CA2484364065
Gene: IRF6 HGNC NCBI

Linked Data

dbSNP Id: rs2077832448

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209786187_209786188del , CM000663.2:g.209786187_209786188del GRCh38
NC_000001.10:g.209959532_209959533del , CM000663.1:g.209959532_209959533del GRCh37
NC_000001.9:g.208026155_208026156del NCBI36
NG_007081.2:g.24949_24950del

Transcript Alleles

HGVS Amino-acid change
ENST00000696133.1:c.1400+2238_1400+2239del ENSP00000512426.1:n.1400+2238_1400+2239de...
ENST00000696134.1:c.*3065_*3066del ENSP00000512427.1:n.*3065_*3066del
ENST00000367021.8:c.*2234_*2235del MANE Select ENSP00000355988.3:n.*2234_*2235del
ENST00000367021.7:c.*2234_*2235del ENSP00000355988.3:n.*2234_*2235del
ENST00000542854.5:c.*2234_*2235del ENSP00000440532.1:n.*2234_*2235del
NM_001206696.1:c.*2234_*2235del NP_001193625.1:n.*2234_*2235del
NM_006147.3:c.*2234_*2235del NP_006138.1:n.*2234_*2235del
NM_006147.4:c.*2234_*2235del MANE Select NP_006138.1:n.*2234_*2235del
NM_001206696.2:c.*2234_*2235del NP_001193625.1:n.*2234_*2235del