Canonical Allele Identifier: CA201791
Community Standard Title: NM_006363.6(SEC23B):c.*9_*10del
Gene: SEC23B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.18560749_18560750del , CM000682.2:g.18560749_18560750del GRCh38
NC_000020.10:g.18541393_18541394del , CM000682.1:g.18541393_18541394del GRCh37
NC_000020.9:g.18489393_18489394del NCBI36
NG_016281.1:g.58206_58207del
NG_016281.2:g.58268_58269del

Transcript Alleles

HGVS Amino-acid Change
NM_006363.6:c.*9_*10del MANE Select NP_006354.2:n.*9_*10del
ENST00000650089.1:c.*9_*10del MANE Select ENSP00000497473.1:n.*9_*10del
NM_001172745.1:c.*9_*10del NP_001166216.1:n.*9_*10del
NM_001172745.2:c.*9_*10del NP_001166216.1:n.*9_*10del
NM_001172745.3:c.*9_*10del NP_001166216.1:n.*9_*10del
NM_001172746.1:c.*9_*10del NP_001166217.1:n.*9_*10del
NM_001172746.2:c.*9_*10del NP_001166217.1:n.*9_*10del
NM_001172746.3:c.*9_*10del NP_001166217.1:n.*9_*10del
NM_006363.4:c.*9_*10del NP_006354.2:n.*9_*10del
NM_032985.4:c.*9_*10del NP_116780.1:n.*9_*10del
NM_032985.5:c.*9_*10del NP_116780.1:n.*9_*10del
NM_032985.6:c.*9_*10del NP_116780.1:n.*9_*10del
NM_032986.3:c.*9_*10del NP_116781.1:n.*9_*10del
NM_032986.4:c.*9_*10del NP_116781.1:n.*9_*10del
NM_032986.5:c.*9_*10del NP_116781.1:n.*9_*10del
ENST00000262544.6:c.*9_*10del ENSP00000262544.2:n.*9_*10del
ENST00000336714.7:c.*9_*10del ENSP00000338844.3:n.*9_*10del
ENST00000336714.8:c.*9_*10del ENSP00000338844.3:n.*9_*10del
ENST00000377465.5:c.*9_*10del ENSP00000366685.1:n.*9_*10del
ENST00000377465.6:c.*9_*10del ENSP00000366685.1:n.*9_*10del
ENST00000377475.7:c.*9_*10del ENSP00000366695.3:n.*9_*10del
ENST00000422877.1:c.750_751del ENSP00000409882.1:n.750_751del
ENST00000643747.1:c.*9_*10del ENSP00000496460.1:n.*9_*10del
XM_017027593.1:c.*9_*10del XP_016883082.1:n.*9_*10del