Canonical Allele Identifier: CA53230192

Gene: RFX8

Linked Data

• dbSNP Id: rs776717294
• gnomAD v2: 2-102029286-CT-C
• gnomAD v3: 2-101412824-CT-C
• gnomAD v4: 2-101412824-CT-C
• MyVariant Identifiers: chr2:g.102029287del (hg19) ; chr2:g.101412825del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412825del , CM000664.2:g.101412825del	GRCh38
NC_000002.11:g.102029287del , CM000664.1:g.102029287del	GRCh37
NC_000002.10:g.101395719del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.1057+90del	ENSP00000494249.2:n.1057+90del
ENST00000428343.6:c.718+90del MANE Select	ENSP00000401536.1:n.718+90del
ENST00000646446.1:c.931+90del	ENSP00000494216.1:n.931+90del
ENST00000646893.1:c.844+90del	ENSP00000494249.1:n.844+90del
ENST00000428343.5:c.718+90del	ENSP00000401536.1:n.718+90del
ENST00000481179.5:c.*434+90del	ENSP00000422968.1:n.*434+90del
NM_001145664.1:c.718+90del	NP_001139136.1:n.718+90del
XM_011511771.1:c.946+90del	XP_011510073.1:n.946+90del
XM_011511772.1:c.931+90del	XP_011510074.1:n.931+90del
XM_011511773.1:c.628+90del	XP_011510075.1:n.628+90del
XM_011511774.1:c.946+90del	XP_011510076.1:n.946+90del
XM_011511775.1:c.946+90del	XP_011510077.1:n.946+90del
XM_011511776.1:c.430+90del	XP_011510078.1:n.430+90del
XM_011511777.1:c.430+90del	XP_011510079.1:n.430+90del
XM_011511778.1:c.430+90del	XP_011510080.1:n.430+90del
XM_011511771.2:c.946+90del	XP_011510073.1:n.946+90del
XM_011511777.2:c.430+90del	XP_011510079.1:n.430+90del
XM_017004851.1:c.1057+90del	XP_016860340.1:n.1057+90del
XM_017004852.1:c.844+90del	XP_016860341.1:n.844+90del
XM_017004853.1:c.1057+90del	XP_016860342.1:n.1057+90del
XM_017004854.1:c.1057+90del	XP_016860343.1:n.1057+90del
XR_001738924.1:n.1001+90del
NM_001145664.2:c.718+90del MANE Select	NP_001139136.2:n.718+90del
NM_001367508.1:c.205+90del	NP_001354437.1:n.205+90del
NM_001367509.1:c.205+90del	NP_001354438.1:n.205+90del
NM_001367510.1:c.205+90del	NP_001354439.1:n.205+90del