Canonical Allele Identifier: CA2639075596

Gene: RPS6KB1

Linked Data

• gnomAD v4: 17-59946928-TAAAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.59946929_59946932del , CM000679.2:g.59946929_59946932del	GRCh38
NC_000017.10:g.58024290_58024293del , CM000679.1:g.58024290_58024293del	GRCh37
NC_000017.9:g.55379072_55379075del	NCBI36
NG_029513.1:g.58848_58851del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225577.9:c.*141_*144del MANE Select	ENSP00000225577.4:n.*141_*144del
ENST00000225577.8:c.*141_*144del	ENSP00000225577.4:n.*141_*144del
ENST00000393021.7:c.*141_*144del	ENSP00000376744.3:n.*141_*144del
ENST00000406116.7:c.1341-658_1341-655del	ENSP00000384335.3:n.1341-658_1341-655del
ENST00000443572.6:c.*141_*144del	ENSP00000441993.1:n.*141_*144del
ENST00000472940.5:c.*1754_*1757del	ENSP00000468058.1:n.*1754_*1757del
ENST00000475155.1:n.707_710del
ENST00000591035.1:c.149+1411_149+1414del	ENSP00000468280.1:n.149+1411_149+1414del
NM_001272042.1:c.*141_*144del	NP_001258971.1:n.*141_*144del
NM_001272043.1:c.1341-658_1341-655del	NP_001258972.1:n.1341-658_1341-655del
NM_001272044.1:c.*141_*144del	NP_001258973.1:n.*141_*144del
NM_001272060.1:c.*141_*144del	NP_001258989.1:n.*141_*144del
NM_003161.3:c.*141_*144del	NP_003152.1:n.*141_*144del
XM_011525101.1:c.*141_*144del	XP_011523403.1:n.*141_*144del
XM_011525103.1:c.*141_*144del	XP_011523405.1:n.*141_*144del
XM_011525104.1:c.*141_*144del	XP_011523406.1:n.*141_*144del
XM_011525101.3:c.*141_*144del	XP_011523403.1:n.*141_*144del
XM_011525103.3:c.*141_*144del	XP_011523405.1:n.*141_*144del
XM_017024929.1:c.*141_*144del	XP_016880418.1:n.*141_*144del
XM_017024930.2:c.*141_*144del	XP_016880419.1:n.*141_*144del
XM_017024931.2:c.*141_*144del	XP_016880420.1:n.*141_*144del
XM_017024932.2:c.*141_*144del	XP_016880421.1:n.*141_*144del
XM_017024933.2:c.*141_*144del	XP_016880422.1:n.*141_*144del
XR_001752581.2:n.1965_1968del
XR_001752582.2:n.1772_1775del
XR_001752583.2:n.1664_1667del
XR_002958051.1:n.3456_3459del
NM_003161.4:c.*141_*144del MANE Select	NP_003152.1:n.*141_*144del
NM_001272043.2:c.1341-658_1341-655del	NP_001258972.1:n.1341-658_1341-655del
NM_001369669.1:c.*141_*144del	NP_001356598.1:n.*141_*144del
NM_001369670.1:c.*141_*144del	NP_001356599.1:n.*141_*144del
NM_001369671.1:c.*141_*144del	NP_001356600.1:n.*141_*144del
NM_001369672.1:c.*141_*144del	NP_001356601.1:n.*141_*144del
NM_001369673.1:c.*1170_*1173del	NP_001356602.1:n.*1170_*1173del
NM_001369674.1:c.*1312_*1315del	NP_001356603.1:n.*1312_*1315del
NM_001369675.1:c.*1204_*1207del	NP_001356604.1:n.*1204_*1207del
NM_001369676.1:c.*1073_*1076del	NP_001356605.1:n.*1073_*1076del
NM_001369677.1:c.*1423_*1426del	NP_001356606.1:n.*1423_*1426del
NM_001369678.1:c.*1170_*1173del	NP_001356607.1:n.*1170_*1173del
NM_001369679.1:c.*1427_*1430del	NP_001356608.1:n.*1427_*1430del
NR_161455.1:n.1635_1638del
NR_161456.1:n.1786_1789del
NR_161457.1:n.1682_1685del
NR_161458.1:n.1980_1983del
NR_161459.1:n.1761_1764del
NR_161460.1:n.2026_2029del
NR_161461.1:n.1787_1790del
NR_161462.1:n.1679_1682del
NM_001272042.2:c.*141_*144del	NP_001258971.1:n.*141_*144del
NM_001272044.2:c.*141_*144del	NP_001258973.1:n.*141_*144del
NM_001272060.2:c.*141_*144del	NP_001258989.1:n.*141_*144del