Canonical Allele Identifier: CA754220348

Gene: RFX8

Linked Data

• dbSNP Id: rs1261296720
• gnomAD v3: 2-101413312-ACTG-A
• gnomAD v4: 2-101413312-ACTG-A
• MyVariant Identifiers: chr2:g.102029775_102029777del (hg19) ; chr2:g.101413313_101413315del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101413324_101413326del , CM000664.2:g.101413324_101413326del	GRCh38
NC_000002.11:g.102029786_102029788del , CM000664.1:g.102029786_102029788del	GRCh37
NC_000002.10:g.101396218_101396220del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.901-244_901-242del	ENSP00000494249.2:n.901-244_901-242del
ENST00000428343.6:c.562-244_562-242del MANE Select	ENSP00000401536.1:n.562-244_562-242del
ENST00000646446.1:c.775-244_775-242del	ENSP00000494216.1:n.775-244_775-242del
ENST00000646893.1:c.688-244_688-242del	ENSP00000494249.1:n.688-244_688-242del
ENST00000428343.5:c.562-244_562-242del	ENSP00000401536.1:n.562-244_562-242del
ENST00000481179.5:c.*278-244_*278-242del	ENSP00000422968.1:n.*278-244_*278-242del
NM_001145664.1:c.562-244_562-242del	NP_001139136.1:n.562-244_562-242del
XM_011511771.1:c.790-244_790-242del	XP_011510073.1:n.790-244_790-242del
XM_011511772.1:c.775-244_775-242del	XP_011510074.1:n.775-244_775-242del
XM_011511773.1:c.472-244_472-242del	XP_011510075.1:n.472-244_472-242del
XM_011511774.1:c.790-244_790-242del	XP_011510076.1:n.790-244_790-242del
XM_011511775.1:c.790-244_790-242del	XP_011510077.1:n.790-244_790-242del
XM_011511776.1:c.274-244_274-242del	XP_011510078.1:n.274-244_274-242del
XM_011511777.1:c.274-244_274-242del	XP_011510079.1:n.274-244_274-242del
XM_011511778.1:c.274-244_274-242del	XP_011510080.1:n.274-244_274-242del
XM_011511779.1:c.731-244_731-242del	XP_011510081.1:n.731-244_731-242del
XM_011511771.2:c.790-244_790-242del	XP_011510073.1:n.790-244_790-242del
XM_011511777.2:c.274-244_274-242del	XP_011510079.1:n.274-244_274-242del
XM_017004851.1:c.901-244_901-242del	XP_016860340.1:n.901-244_901-242del
XM_017004852.1:c.688-244_688-242del	XP_016860341.1:n.688-244_688-242del
XM_017004853.1:c.901-244_901-242del	XP_016860342.1:n.901-244_901-242del
XM_017004854.1:c.901-244_901-242del	XP_016860343.1:n.901-244_901-242del
XR_001738924.1:n.845-244_845-242del
NM_001145664.2:c.562-244_562-242del MANE Select	NP_001139136.2:n.562-244_562-242del
NM_001367508.1:c.49-244_49-242del	NP_001354437.1:n.49-244_49-242del
NM_001367509.1:c.49-244_49-242del	NP_001354438.1:n.49-244_49-242del
NM_001367510.1:c.49-244_49-242del	NP_001354439.1:n.49-244_49-242del