Canonical Allele Identifier: CA2641247344

Gene: RBBP8

Linked Data

• gnomAD v4: 18-22993054-TAAAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.22993055_22993059del , CM000680.2:g.22993055_22993059del	GRCh38
NC_000018.9:g.20573018_20573022del , CM000680.1:g.20573018_20573022del	GRCh37
NC_000018.8:g.18827016_18827020del	NCBI36
NG_012121.1:g.64724_64728del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327155.10:c.1228_1232del MANE Select	ENSP00000323050.5:p.Lys410TyrfsTer3
ENST00000327155.9:c.1228_1232del	ENSP00000323050.5:p.Lys410TyrfsTer3
ENST00000360790.9:c.1228_1232del	ENSP00000354024.5:p.Lys410TyrfsTer3
ENST00000399721.6:c.1228_1232del	ENSP00000382627.2:p.Lys410TyrfsTer3
ENST00000399722.6:c.1228_1232del	ENSP00000382628.2:p.Lys410TyrfsTer3
ENST00000399725.6:c.1228_1232del	ENSP00000382630.2:p.Lys410TyrfsTer3
NM_002894.2:c.1228_1232del	NP_002885.1:p.Lys410TyrfsTer3
NM_203291.1:c.1228_1232del	NP_976036.1:p.Lys410TyrfsTer3
NM_203292.1:c.1228_1232del	NP_976037.1:p.Lys410TyrfsTer3
XM_005258325.1:c.1228_1232del	XP_005258382.1:p.Lys410TyrfsTer3
XM_005258326.2:c.406_410del	XP_005258383.1:p.Lys136TyrfsTer3
XM_006722519.1:c.1228_1232del	XP_006722582.1:p.Lys410TyrfsTer3
XM_006722520.1:c.1228_1232del	XP_006722583.1:p.Lys410TyrfsTer3
XM_006722521.1:c.1228_1232del	XP_006722584.1:p.Lys410TyrfsTer3
XM_011526132.1:c.1228_1232del	XP_011524434.1:p.Lys410TyrfsTer3
XM_005258325.3:c.1228_1232del	XP_005258382.1:p.Lys410TyrfsTer3
XM_005258326.4:c.406_410del	XP_005258383.1:p.Lys136TyrfsTer3
XM_006722519.2:c.1228_1232del	XP_006722582.1:p.Lys410TyrfsTer3
XM_006722520.2:c.1228_1232del	XP_006722583.1:p.Lys410TyrfsTer3
XM_006722521.2:c.1228_1232del	XP_006722584.1:p.Lys410TyrfsTer3
XM_011526132.2:c.1228_1232del	XP_011524434.1:p.Lys410TyrfsTer3
XM_017025916.1:c.406_410del	XP_016881405.1:p.Lys136TyrfsTer3
XM_024451233.1:c.934_938del	XP_024307001.1:p.Lys312TyrfsTer3
NM_002894.3:c.1228_1232del MANE Select	NP_002885.1:p.Lys410TyrfsTer3
NM_203291.2:c.1228_1232del	NP_976036.1:p.Lys410TyrfsTer3
NM_203292.2:c.1228_1232del	NP_976037.1:p.Lys410TyrfsTer3