Canonical Allele Identifier: CA2553400774
Gene: SEC23B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.18526425del , CM000682.2:g.18526425del GRCh38
NC_000020.10:g.18507069del , CM000682.1:g.18507069del GRCh37
NC_000020.9:g.18455069del NCBI36
NG_016281.1:g.23882del
NG_016281.2:g.23944del

Transcript Alleles

HGVS Amino-acid Change
ENST00000336714.8:c.887del ENSP00000338844.3:p.Pro296LeufsTer13
ENST00000377465.6:c.887del ENSP00000366685.1:p.Pro296LeufsTer13
ENST00000450074.6:c.887del ENSP00000403971.1:p.Pro296LeufsTer13
ENST00000643747.1:c.833del ENSP00000496460.1:p.Pro278LeufsTer13
ENST00000650089.1:c.887del MANE Select ENSP00000497473.1:p.Pro296LeufsTer13
ENST00000262544.6:c.887del ENSP00000262544.2:p.Pro296LeufsTer13
ENST00000336714.7:c.887del ENSP00000338844.3:p.Pro296LeufsTer13
ENST00000377465.5:c.887del ENSP00000366685.1:p.Pro296LeufsTer13
ENST00000377475.7:c.887del ENSP00000366695.3:p.Pro296LeufsTer13
ENST00000450074.5:c.887del ENSP00000403971.1:p.Pro296LeufsTer13
NM_001172745.1:c.887del NP_001166216.1:p.Pro296LeufsTer13
NM_001172746.1:c.833del NP_001166217.1:p.Pro278LeufsTer13
NM_006363.4:c.887del NP_006354.2:p.Pro296LeufsTer13
NM_032985.4:c.887del NP_116780.1:p.Pro296LeufsTer13
NM_032986.3:c.887del NP_116781.1:p.Pro296LeufsTer13
NM_001172745.2:c.887del NP_001166216.1:p.Pro296LeufsTer13
NM_001172746.2:c.833del NP_001166217.1:p.Pro278LeufsTer13
NM_006363.6:c.887del MANE Select NP_006354.2:p.Pro296LeufsTer13
NM_032985.5:c.887del NP_116780.1:p.Pro296LeufsTer13
NM_032986.4:c.887del NP_116781.1:p.Pro296LeufsTer13
XM_017027593.1:c.887del XP_016883082.1:p.Pro296LeufsTer13
NM_001172745.3:c.887del NP_001166216.1:p.Pro296LeufsTer13
NM_001172746.3:c.833del NP_001166217.1:p.Pro278LeufsTer13
NM_032985.6:c.887del NP_116780.1:p.Pro296LeufsTer13
NM_032986.5:c.887del NP_116781.1:p.Pro296LeufsTer13