Canonical Allele Identifier: CA2641247342
Gene: RBBP8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.22993046_22993049del , CM000680.2:g.22993046_22993049del GRCh38
NC_000018.9:g.20573009_20573012del , CM000680.1:g.20573009_20573012del GRCh37
NC_000018.8:g.18827007_18827010del NCBI36
NG_012121.1:g.64715_64718del

Transcript Alleles

HGVS Amino-acid Change
ENST00000327155.10:c.1219_1222del MANE Select ENSP00000323050.5:p.Leu407Ter
ENST00000327155.9:c.1219_1222del ENSP00000323050.5:p.Leu407Ter
ENST00000360790.9:c.1219_1222del ENSP00000354024.5:p.Leu407Ter
ENST00000399721.6:c.1219_1222del ENSP00000382627.2:p.Leu407Ter
ENST00000399722.6:c.1219_1222del ENSP00000382628.2:p.Leu407Ter
ENST00000399725.6:c.1219_1222del ENSP00000382630.2:p.Leu407Ter
NM_002894.2:c.1219_1222del NP_002885.1:p.Leu407Ter
NM_203291.1:c.1219_1222del NP_976036.1:p.Leu407Ter
NM_203292.1:c.1219_1222del NP_976037.1:p.Leu407Ter
XM_005258325.1:c.1219_1222del XP_005258382.1:p.Leu407Ter
XM_005258326.2:c.397_400del XP_005258383.1:p.Leu133Ter
XM_006722519.1:c.1219_1222del XP_006722582.1:p.Leu407Ter
XM_006722520.1:c.1219_1222del XP_006722583.1:p.Leu407Ter
XM_006722521.1:c.1219_1222del XP_006722584.1:p.Leu407Ter
XM_011526132.1:c.1219_1222del XP_011524434.1:p.Leu407Ter
XM_005258325.3:c.1219_1222del XP_005258382.1:p.Leu407Ter
XM_005258326.4:c.397_400del XP_005258383.1:p.Leu133Ter
XM_006722519.2:c.1219_1222del XP_006722582.1:p.Leu407Ter
XM_006722520.2:c.1219_1222del XP_006722583.1:p.Leu407Ter
XM_006722521.2:c.1219_1222del XP_006722584.1:p.Leu407Ter
XM_011526132.2:c.1219_1222del XP_011524434.1:p.Leu407Ter
XM_017025916.1:c.397_400del XP_016881405.1:p.Leu133Ter
XM_024451233.1:c.925_928del XP_024307001.1:p.Leu309Ter
NM_002894.3:c.1219_1222del MANE Select NP_002885.1:p.Leu407Ter
NM_203291.2:c.1219_1222del NP_976036.1:p.Leu407Ter
NM_203292.2:c.1219_1222del NP_976037.1:p.Leu407Ter