Canonical Allele Identifier: CA2573149932
Community Standard Title: NM_006364.4(SEC23A):c.178_179del (p.Leu60ValfsTer2)
Gene: SEC23A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.39095941_39095942del , CM000676.2:g.39095941_39095942del GRCh38
NC_000014.8:g.39565145_39565146del , CM000676.1:g.39565145_39565146del GRCh37
NC_000014.7:g.38634896_38634897del NCBI36
NG_012157.1:g.12293_12294del

Transcript Alleles

HGVS Amino-acid Change
NM_006364.4:c.178_179del MANE Select NP_006355.2:p.Leu60ValfsTer2
ENST00000307712.11:c.178_179del MANE Select ENSP00000306881.6:p.Leu60ValfsTer2
NM_006364.2:c.178_179del NP_006355.2:p.Leu60ValfsTer2
NM_006364.3:c.178_179del NP_006355.2:p.Leu60ValfsTer2
ENST00000307712.10:c.178_179del ENSP00000306881.6:p.Leu60ValfsTer2
ENST00000545328.6:c.178_179del ENSP00000445393.2:p.Leu60ValfsTer2
ENST00000548032.6:c.178_179del ENSP00000447489.2:p.Leu60ValfsTer2
ENST00000553970.1:c.178_179del ENSP00000451924.1:p.Leu60ValfsTer2
ENST00000555017.5:c.178_179del ENSP00000450819.1:p.Leu60ValfsTer2
ENST00000555425.5:c.178_179del ENSP00000451999.1:p.Leu60ValfsTer2
ENST00000556092.5:c.178_179del ENSP00000451230.1:p.Leu60ValfsTer2
ENST00000557280.5:c.178_179del ENSP00000452575.1:p.Leu60ValfsTer2
ENST00000625395.1:c.178_179del ENSP00000486142.1:p.Leu60ValfsTer2
XM_005267262.1:c.178_179del XP_005267319.1:p.Leu60ValfsTer2
XM_005267262.2:c.178_179del XP_005267319.1:p.Leu60ValfsTer2
XM_011536355.1:c.178_179del XP_011534657.1:p.Leu60ValfsTer2
XM_011536355.3:c.178_179del XP_011534657.1:p.Leu60ValfsTer2
XM_017020928.2:c.178_179del XP_016876417.1:p.Leu60ValfsTer2