Canonical Allele Identifier: CA2740097033

Gene: SEC23B

Linked Data

• ClinVar Variation Id: 2922469
• ClinVar RCV Id: RCV003785683

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.18526411del , CM000682.2:g.18526411del	GRCh38
NC_000020.10:g.18507055del , CM000682.1:g.18507055del	GRCh37
NC_000020.9:g.18455055del	NCBI36
NG_016281.1:g.23868del
NG_016281.2:g.23930del

Transcript Alleles

HGVS	Amino-acid change
ENST00000336714.8:c.873del	ENSP00000338844.3:p.Phe291LeufsTer18
ENST00000377465.6:c.873del	ENSP00000366685.1:p.Phe291LeufsTer18
ENST00000450074.6:c.873del	ENSP00000403971.1:p.Phe291LeufsTer18
ENST00000643747.1:c.819del	ENSP00000496460.1:p.Phe273LeufsTer18
ENST00000650089.1:c.873del MANE Select	ENSP00000497473.1:p.Phe291LeufsTer18
ENST00000262544.6:c.873del	ENSP00000262544.2:p.Phe291LeufsTer18
ENST00000336714.7:c.873del	ENSP00000338844.3:p.Phe291LeufsTer18
ENST00000377465.5:c.873del	ENSP00000366685.1:p.Phe291LeufsTer18
ENST00000377475.7:c.873del	ENSP00000366695.3:p.Phe291LeufsTer18
ENST00000450074.5:c.873del	ENSP00000403971.1:p.Phe291LeufsTer18
NM_001172745.1:c.873del	NP_001166216.1:p.Phe291LeufsTer18
NM_001172746.1:c.819del	NP_001166217.1:p.Phe273LeufsTer18
NM_006363.4:c.873del	NP_006354.2:p.Phe291LeufsTer18
NM_032985.4:c.873del	NP_116780.1:p.Phe291LeufsTer18
NM_032986.3:c.873del	NP_116781.1:p.Phe291LeufsTer18
NM_001172745.2:c.873del	NP_001166216.1:p.Phe291LeufsTer18
NM_001172746.2:c.819del	NP_001166217.1:p.Phe273LeufsTer18
NM_006363.6:c.873del MANE Select	NP_006354.2:p.Phe291LeufsTer18
NM_032985.5:c.873del	NP_116780.1:p.Phe291LeufsTer18
NM_032986.4:c.873del	NP_116781.1:p.Phe291LeufsTer18
XM_017027593.1:c.873del	XP_016883082.1:p.Phe291LeufsTer18
NM_001172745.3:c.873del	NP_001166216.1:p.Phe291LeufsTer18
NM_001172746.3:c.819del	NP_001166217.1:p.Phe273LeufsTer18
NM_032985.6:c.873del	NP_116780.1:p.Phe291LeufsTer18
NM_032986.5:c.873del	NP_116781.1:p.Phe291LeufsTer18