Canonical Allele Identifier: CA2503162930

Gene: SEC23B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.18526382_18526383insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG , CM000682.2:g.18526382_18526383insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG	GRCh38
NC_000020.10:g.18507026_18507027insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG , CM000682.1:g.18507026_18507027insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG	GRCh37
NC_000020.9:g.18455026_18455027insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG	NCBI36
NG_016281.1:g.23839_23840insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG
NG_016281.2:g.23901_23902insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336714.8:c.844_845insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG	ENSP00000338844.3:p.Pro282GlnfsTer38
ENST00000377465.6:c.844_845insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG	ENSP00000366685.1:p.Pro282GlnfsTer38
ENST00000450074.6:c.844_845insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG	ENSP00000403971.1:p.Pro282GlnfsTer38
ENST00000643747.1:c.790_791insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG	ENSP00000496460.1:p.Pro264GlnfsTer38
ENST00000650089.1:c.844_845insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG MANE Select	ENSP00000497473.1:p.Pro282GlnfsTer38
ENST00000262544.6:c.844_845insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG	ENSP00000262544.2:p.Pro282GlnfsTer38
ENST00000336714.7:c.844_845insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG	ENSP00000338844.3:p.Pro282GlnfsTer38
ENST00000377465.5:c.844_845insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG	ENSP00000366685.1:p.Pro282GlnfsTer38
ENST00000377475.7:c.844_845insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG	ENSP00000366695.3:p.Pro282GlnfsTer38
ENST00000450074.5:c.844_845insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG	ENSP00000403971.1:p.Pro282GlnfsTer38
NM_001172745.1:c.844_845insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG	NP_001166216.1:p.Pro282GlnfsTer38
NM_001172746.1:c.790_791insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG	NP_001166217.1:p.Pro264GlnfsTer38
NM_006363.4:c.844_845insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG	NP_006354.2:p.Pro282GlnfsTer38
NM_032985.4:c.844_845insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG	NP_116780.1:p.Pro282GlnfsTer38
NM_032986.3:c.844_845insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG	NP_116781.1:p.Pro282GlnfsTer38
NM_001172745.2:c.844_845insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG	NP_001166216.1:p.Pro282GlnfsTer38
NM_001172746.2:c.790_791insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG	NP_001166217.1:p.Pro264GlnfsTer38
NM_006363.6:c.844_845insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG MANE Select	NP_006354.2:p.Pro282GlnfsTer38
NM_032985.5:c.844_845insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG	NP_116780.1:p.Pro282GlnfsTer38
NM_032986.4:c.844_845insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG	NP_116781.1:p.Pro282GlnfsTer38
XM_017027593.1:c.844_845insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG	XP_016883082.1:p.Pro282GlnfsTer38
NM_001172745.3:c.844_845insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG	NP_001166216.1:p.Pro282GlnfsTer38
NM_001172746.3:c.790_791insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG	NP_001166217.1:p.Pro264GlnfsTer38
NM_032985.6:c.844_845insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG	NP_116780.1:p.Pro282GlnfsTer38
NM_032986.5:c.844_845insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG	NP_116781.1:p.Pro282GlnfsTer38