Canonical Allele Identifier: CA2740097034

Gene: SEC23B

Linked Data

• ClinVar Variation Id: 2945496
• ClinVar RCV Id: RCV003803590

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.18526521dup , CM000682.2:g.18526521dup	GRCh38
NC_000020.10:g.18507165dup , CM000682.1:g.18507165dup	GRCh37
NC_000020.9:g.18455165dup	NCBI36
NG_016281.1:g.23978dup
NG_016281.2:g.24040dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336714.8:c.983dup	ENSP00000338844.3:p.Ala329GlyfsTer6
ENST00000377465.6:c.983dup	ENSP00000366685.1:p.Ala329GlyfsTer6
ENST00000450074.6:c.983dup	ENSP00000403971.1:p.Ala329GlyfsTer?
ENST00000643747.1:c.929dup	ENSP00000496460.1:p.Ala311GlyfsTer6
ENST00000650089.1:c.983dup MANE Select	ENSP00000497473.1:p.Ala329GlyfsTer6
ENST00000262544.6:c.983dup	ENSP00000262544.2:p.Ala329GlyfsTer6
ENST00000336714.7:c.983dup	ENSP00000338844.3:p.Ala329GlyfsTer6
ENST00000377465.5:c.983dup	ENSP00000366685.1:p.Ala329GlyfsTer6
ENST00000377475.7:c.983dup	ENSP00000366695.3:p.Ala329GlyfsTer6
ENST00000450074.5:c.983dup	ENSP00000403971.1:p.Ala329GlyfsTer?
NM_001172745.1:c.983dup	NP_001166216.1:p.Ala329GlyfsTer6
NM_001172746.1:c.929dup	NP_001166217.1:p.Ala311GlyfsTer6
NM_006363.4:c.983dup	NP_006354.2:p.Ala329GlyfsTer6
NM_032985.4:c.983dup	NP_116780.1:p.Ala329GlyfsTer6
NM_032986.3:c.983dup	NP_116781.1:p.Ala329GlyfsTer6
NM_001172745.2:c.983dup	NP_001166216.1:p.Ala329GlyfsTer6
NM_001172746.2:c.929dup	NP_001166217.1:p.Ala311GlyfsTer6
NM_006363.6:c.983dup MANE Select	NP_006354.2:p.Ala329GlyfsTer6
NM_032985.5:c.983dup	NP_116780.1:p.Ala329GlyfsTer6
NM_032986.4:c.983dup	NP_116781.1:p.Ala329GlyfsTer6
XM_017027593.1:c.983dup	XP_016883082.1:p.Ala329GlyfsTer6
NM_001172745.3:c.983dup	NP_001166216.1:p.Ala329GlyfsTer6
NM_001172746.3:c.929dup	NP_001166217.1:p.Ala311GlyfsTer6
NM_032985.6:c.983dup	NP_116780.1:p.Ala329GlyfsTer6
NM_032986.5:c.983dup	NP_116781.1:p.Ala329GlyfsTer6