Canonical Allele Identifier: CA2729497011

Gene: SEC23A

Linked Data

• dbSNP Id: rs2139236418

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.39067195_39067196del , CM000676.2:g.39067195_39067196del	GRCh38
NC_000014.8:g.39536399_39536400del , CM000676.1:g.39536399_39536400del	GRCh37
NC_000014.7:g.38606150_38606151del	NCBI36
NG_012157.1:g.41039_41040del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307712.11:c.1205_1206del MANE Select	ENSP00000306881.6:p.Phe402TrpfsTer27
ENST00000307712.10:c.1205_1206del	ENSP00000306881.6:p.Phe402TrpfsTer27
ENST00000537403.5:c.599_600del	ENSP00000444193.1:p.Phe200TrpfsTer27
ENST00000545328.6:c.1118_1119del	ENSP00000445393.2:p.Phe373TrpfsTer27
ENST00000553925.1:n.17_18del
NM_006364.2:c.1205_1206del	NP_006355.2:p.Phe402TrpfsTer27
XM_005267262.1:c.1205_1206del	XP_005267319.1:p.Phe402TrpfsTer27
XM_011536355.1:c.1205_1206del	XP_011534657.1:p.Phe402TrpfsTer27
NM_006364.3:c.1205_1206del	NP_006355.2:p.Phe402TrpfsTer27
XM_005267262.2:c.1205_1206del	XP_005267319.1:p.Phe402TrpfsTer27
XM_011536355.3:c.1205_1206del	XP_011534657.1:p.Phe402TrpfsTer27
XM_017020928.2:c.1205_1206del	XP_016876417.1:p.Phe402TrpfsTer27
NM_006364.4:c.1205_1206del MANE Select	NP_006355.2:p.Phe402TrpfsTer27