Canonical Allele Identifier: CA626776520

Gene: RPS6KB1

Linked Data

• dbSNP Id: rs1355477424
• gnomAD v2: 17-58024277-AC-A
• gnomAD v3: 17-59946916-AC-A
• gnomAD v4: 17-59946916-AC-A
• MyVariant Identifiers: chr17:g.58024278del (hg19) ; chr17:g.59946917del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.59946917del , CM000679.2:g.59946917del	GRCh38
NC_000017.10:g.58024278del , CM000679.1:g.58024278del	GRCh37
NC_000017.9:g.55379060del	NCBI36
NG_029513.1:g.58836del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225577.9:c.*129del MANE Select	ENSP00000225577.4:n.*129del
ENST00000225577.8:c.*129del	ENSP00000225577.4:n.*129del
ENST00000393021.7:c.*129del	ENSP00000376744.3:n.*129del
ENST00000406116.7:c.1341-670del	ENSP00000384335.3:n.1341-670del
ENST00000443572.6:c.*129del	ENSP00000441993.1:n.*129del
ENST00000472940.5:c.*1742del	ENSP00000468058.1:n.*1742del
ENST00000475155.1:n.695del
ENST00000591035.1:c.149+1399del	ENSP00000468280.1:n.149+1399del
NM_001272042.1:c.*129del	NP_001258971.1:n.*129del
NM_001272043.1:c.1341-670del	NP_001258972.1:n.1341-670del
NM_001272044.1:c.*129del	NP_001258973.1:n.*129del
NM_001272060.1:c.*129del	NP_001258989.1:n.*129del
NM_003161.3:c.*129del	NP_003152.1:n.*129del
XM_011525101.1:c.*129del	XP_011523403.1:n.*129del
XM_011525103.1:c.*129del	XP_011523405.1:n.*129del
XM_011525104.1:c.*129del	XP_011523406.1:n.*129del
XM_011525101.3:c.*129del	XP_011523403.1:n.*129del
XM_011525103.3:c.*129del	XP_011523405.1:n.*129del
XM_017024929.1:c.*129del	XP_016880418.1:n.*129del
XM_017024930.2:c.*129del	XP_016880419.1:n.*129del
XM_017024931.2:c.*129del	XP_016880420.1:n.*129del
XM_017024932.2:c.*129del	XP_016880421.1:n.*129del
XM_017024933.2:c.*129del	XP_016880422.1:n.*129del
XR_001752581.2:n.1953del
XR_001752582.2:n.1760del
XR_001752583.2:n.1652del
XR_002958051.1:n.3444del
NM_003161.4:c.*129del MANE Select	NP_003152.1:n.*129del
NM_001272043.2:c.1341-670del	NP_001258972.1:n.1341-670del
NM_001369669.1:c.*129del	NP_001356598.1:n.*129del
NM_001369670.1:c.*129del	NP_001356599.1:n.*129del
NM_001369671.1:c.*129del	NP_001356600.1:n.*129del
NM_001369672.1:c.*129del	NP_001356601.1:n.*129del
NM_001369673.1:c.*1158del	NP_001356602.1:n.*1158del
NM_001369674.1:c.*1300del	NP_001356603.1:n.*1300del
NM_001369675.1:c.*1192del	NP_001356604.1:n.*1192del
NM_001369676.1:c.*1061del	NP_001356605.1:n.*1061del
NM_001369677.1:c.*1411del	NP_001356606.1:n.*1411del
NM_001369678.1:c.*1158del	NP_001356607.1:n.*1158del
NM_001369679.1:c.*1415del	NP_001356608.1:n.*1415del
NR_161455.1:n.1623del
NR_161456.1:n.1774del
NR_161457.1:n.1670del
NR_161458.1:n.1968del
NR_161459.1:n.1749del
NR_161460.1:n.2014del
NR_161461.1:n.1775del
NR_161462.1:n.1667del
NM_001272042.2:c.*129del	NP_001258971.1:n.*129del
NM_001272044.2:c.*129del	NP_001258973.1:n.*129del
NM_001272060.2:c.*129del	NP_001258989.1:n.*129del