Canonical Allele Identifier: CA2130612089

Gene: SEC23A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.39067209_39067210delinsCT , CM000676.2:g.39067209_39067210delinsCT	GRCh38
NC_000014.8:g.39536413_39536414delinsCT , CM000676.1:g.39536413_39536414delinsCT	GRCh37
NC_000014.7:g.38606164_38606165delinsCT	NCBI36
NG_012157.1:g.41024_41025delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307712.11:c.1190_1191delinsAG MANE Select	ENSP00000306881.6:p.Gln397=
ENST00000307712.10:c.1190_1191delinsAG	ENSP00000306881.6:p.Gln397=
ENST00000537403.5:c.584_585delinsAG	ENSP00000444193.1:p.Gln195=
ENST00000545328.6:c.1103_1104delinsAG	ENSP00000445393.2:p.Gln368=
ENST00000553925.1:n.2_3delinsAG
NM_006364.2:c.1190_1191delinsAG	NP_006355.2:p.Gln397=
XM_005267262.1:c.1190_1191delinsAG	XP_005267319.1:p.Gln397=
XM_011536355.1:c.1190_1191delinsAG	XP_011534657.1:p.Gln397=
NM_006364.3:c.1190_1191delinsAG	NP_006355.2:p.Gln397=
XM_005267262.2:c.1190_1191delinsAG	XP_005267319.1:p.Gln397=
XM_011536355.3:c.1190_1191delinsAG	XP_011534657.1:p.Gln397=
XM_017020928.2:c.1190_1191delinsAG	XP_016876417.1:p.Gln397=
NM_006364.4:c.1190_1191delinsAG MANE Select	NP_006355.2:p.Gln397=