Canonical Allele Identifier: CA2680129517
Gene: RFX6 HGNC NCBI

Linked Data

gnomAD v4: 6-116882420-CCATT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116882423_116882426del , CM000668.2:g.116882423_116882426del GRCh38
NC_000006.11:g.117203586_117203589del , CM000668.1:g.117203586_117203589del GRCh37
NC_000006.10:g.117310279_117310282del NCBI36
NG_027699.1:g.10211_10214del

Transcript Alleles

HGVS Amino-acid Change
ENST00000332958.3:c.561_564del MANE Select ENSP00000332208.2:p.His187GlnfsTer26
ENST00000332958.2:c.561_564del ENSP00000332208.2:p.His187GlnfsTer26
ENST00000487683.5:n.625_628del
NM_173560.3:c.561_564del NP_775831.2:p.His187GlnfsTer26
XM_011535589.1:c.561_564del XP_011533891.1:p.His187GlnfsTer26
XM_017010477.1:c.183_186del XP_016865966.1:p.His61GlnfsTer26
NM_173560.4:c.561_564del MANE Select NP_775831.2:p.His187GlnfsTer26
Search 100 bp 5'
Search 100 bp 3'