Canonical Allele Identifier: CA2652042598

Gene: SEC23B

Linked Data

• gnomAD v4: 20-18526484-CATG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.18526487_18526489del , CM000682.2:g.18526487_18526489del	GRCh38
NC_000020.10:g.18507131_18507133del , CM000682.1:g.18507131_18507133del	GRCh37
NC_000020.9:g.18455131_18455133del	NCBI36
NG_016281.1:g.23944_23946del
NG_016281.2:g.24006_24008del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336714.8:c.949_951del	ENSP00000338844.3:p.Asp317del
ENST00000377465.6:c.949_951del	ENSP00000366685.1:p.Asp317del
ENST00000450074.6:c.949_951del	ENSP00000403971.1:p.Asp317del
ENST00000643747.1:c.895_897del	ENSP00000496460.1:p.Asp299del
ENST00000650089.1:c.949_951del MANE Select	ENSP00000497473.1:p.Asp317del
ENST00000262544.6:c.949_951del	ENSP00000262544.2:p.Asp317del
ENST00000336714.7:c.949_951del	ENSP00000338844.3:p.Asp317del
ENST00000377465.5:c.949_951del	ENSP00000366685.1:p.Asp317del
ENST00000377475.7:c.949_951del	ENSP00000366695.3:p.Asp317del
ENST00000450074.5:c.949_951del	ENSP00000403971.1:p.Asp317del
NM_001172745.1:c.949_951del	NP_001166216.1:p.Asp317del
NM_001172746.1:c.895_897del	NP_001166217.1:p.Asp299del
NM_006363.4:c.949_951del	NP_006354.2:p.Asp317del
NM_032985.4:c.949_951del	NP_116780.1:p.Asp317del
NM_032986.3:c.949_951del	NP_116781.1:p.Asp317del
NM_001172745.2:c.949_951del	NP_001166216.1:p.Asp317del
NM_001172746.2:c.895_897del	NP_001166217.1:p.Asp299del
NM_006363.6:c.949_951del MANE Select	NP_006354.2:p.Asp317del
NM_032985.5:c.949_951del	NP_116780.1:p.Asp317del
NM_032986.4:c.949_951del	NP_116781.1:p.Asp317del
XM_017027593.1:c.949_951del	XP_016883082.1:p.Asp317del
NM_001172745.3:c.949_951del	NP_001166216.1:p.Asp317del
NM_001172746.3:c.895_897del	NP_001166217.1:p.Asp299del
NM_032985.6:c.949_951del	NP_116780.1:p.Asp317del
NM_032986.5:c.949_951del	NP_116781.1:p.Asp317del