Canonical Allele Identifier: CA535107088

Gene: RFX8

Linked Data

• dbSNP Id: rs1558845357
• gnomAD v2: 2-102029460-TG-T
• gnomAD v4: 2-101412998-TG-T
• MyVariant Identifiers: chr2:g.102029461del (hg19) ; chr2:g.101412999del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412999del , CM000664.2:g.101412999del	GRCh38
NC_000002.11:g.102029461del , CM000664.1:g.102029461del	GRCh37
NC_000002.10:g.101395893del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.973del	ENSP00000494249.2:p.Gln325LysfsTer27
ENST00000428343.6:c.634del MANE Select	ENSP00000401536.1:p.Gln212LysfsTer27
ENST00000646446.1:c.847del	ENSP00000494216.1:p.Gln283LysfsTer27
ENST00000646893.1:c.760del	ENSP00000494249.1:p.Gln254LysfsTer27
ENST00000428343.5:c.634del	ENSP00000401536.1:p.Gln212LysfsTer27
ENST00000481179.5:c.*350del	ENSP00000422968.1:n.*350del
NM_001145664.1:c.634del	NP_001139136.1:p.Gln212LysfsTer27
XM_011511771.1:c.862del	XP_011510073.1:p.Gln288LysfsTer27
XM_011511772.1:c.847del	XP_011510074.1:p.Gln283LysfsTer27
XM_011511773.1:c.544del	XP_011510075.1:p.Gln182LysfsTer27
XM_011511774.1:c.862del	XP_011510076.1:p.Gln288LysfsTer27
XM_011511775.1:c.862del	XP_011510077.1:p.Gln288LysfsTer27
XM_011511776.1:c.346del	XP_011510078.1:p.Gln116LysfsTer27
XM_011511777.1:c.346del	XP_011510079.1:p.Gln116LysfsTer27
XM_011511778.1:c.346del	XP_011510080.1:p.Gln116LysfsTer27
XM_011511779.1:c.*47del	XP_011510081.1:n.*47del
XM_011511771.2:c.862del	XP_011510073.1:p.Gln288LysfsTer27
XM_011511777.2:c.346del	XP_011510079.1:p.Gln116LysfsTer27
XM_017004851.1:c.973del	XP_016860340.1:p.Gln325LysfsTer27
XM_017004852.1:c.760del	XP_016860341.1:p.Gln254LysfsTer27
XM_017004853.1:c.973del	XP_016860342.1:p.Gln325LysfsTer27
XM_017004854.1:c.973del	XP_016860343.1:p.Gln325LysfsTer27
XR_001738924.1:n.917del
NM_001145664.2:c.634del MANE Select	NP_001139136.2:p.Gln212LysfsTer27
NM_001367508.1:c.121del	NP_001354437.1:p.Gln41LysfsTer27
NM_001367509.1:c.121del	NP_001354438.1:p.Gln41LysfsTer27
NM_001367510.1:c.121del	NP_001354439.1:p.Gln41LysfsTer27