Canonical Allele Identifier: CA312396309

Gene: SEC23B

Linked Data

• dbSNP Id: rs756503772
• MyVariant Identifiers: chr20:g.18507149_18507150insCA (hg19) ; chr20:g.18526505_18526506insCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.18526507_18526508dup , CM000682.2:g.18526507_18526508dup	GRCh38
NC_000020.10:g.18507151_18507152dup , CM000682.1:g.18507151_18507152dup	GRCh37
NC_000020.9:g.18455151_18455152dup	NCBI36
NG_016281.1:g.23964_23965dup
NG_016281.2:g.24026_24027dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336714.8:c.969_970dup	ENSP00000338844.3:p.Arg324HisfsTer4
ENST00000377465.6:c.969_970dup	ENSP00000366685.1:p.Arg324HisfsTer4
ENST00000450074.6:c.969_970dup	ENSP00000403971.1:p.Arg324HisfsTer4
ENST00000643747.1:c.915_916dup	ENSP00000496460.1:p.Arg306HisfsTer4
ENST00000650089.1:c.969_970dup MANE Select	ENSP00000497473.1:p.Arg324HisfsTer4
ENST00000262544.6:c.969_970dup	ENSP00000262544.2:p.Arg324HisfsTer4
ENST00000336714.7:c.969_970dup	ENSP00000338844.3:p.Arg324HisfsTer4
ENST00000377465.5:c.969_970dup	ENSP00000366685.1:p.Arg324HisfsTer4
ENST00000377475.7:c.969_970dup	ENSP00000366695.3:p.Arg324HisfsTer4
ENST00000450074.5:c.969_970dup	ENSP00000403971.1:p.Arg324HisfsTer4
NM_001172745.1:c.969_970dup	NP_001166216.1:p.Arg324HisfsTer4
NM_001172746.1:c.915_916dup	NP_001166217.1:p.Arg306HisfsTer4
NM_006363.4:c.969_970dup	NP_006354.2:p.Arg324HisfsTer4
NM_032985.4:c.969_970dup	NP_116780.1:p.Arg324HisfsTer4
NM_032986.3:c.969_970dup	NP_116781.1:p.Arg324HisfsTer4
NM_001172745.2:c.969_970dup	NP_001166216.1:p.Arg324HisfsTer4
NM_001172746.2:c.915_916dup	NP_001166217.1:p.Arg306HisfsTer4
NM_006363.6:c.969_970dup MANE Select	NP_006354.2:p.Arg324HisfsTer4
NM_032985.5:c.969_970dup	NP_116780.1:p.Arg324HisfsTer4
NM_032986.4:c.969_970dup	NP_116781.1:p.Arg324HisfsTer4
XM_017027593.1:c.969_970dup	XP_016883082.1:p.Arg324HisfsTer4
NM_001172745.3:c.969_970dup	NP_001166216.1:p.Arg324HisfsTer4
NM_001172746.3:c.915_916dup	NP_001166217.1:p.Arg306HisfsTer4
NM_032985.6:c.969_970dup	NP_116780.1:p.Arg324HisfsTer4
NM_032986.5:c.969_970dup	NP_116781.1:p.Arg324HisfsTer4