Canonical Allele Identifier: CA259543447

Gene: SEC23A

Linked Data

• dbSNP Id: rs866140423
• gnomAD v4: 14-39067234-ACT-A
• MyVariant Identifiers: chr14:g.39536439_39536440del (hg19) ; chr14:g.39067236_39067237del (hg38) ; chr14:g.39067235_39067236del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.39067237_39067238del , CM000676.2:g.39067237_39067238del	GRCh38
NC_000014.8:g.39536441_39536442del , CM000676.1:g.39536441_39536442del	GRCh37
NC_000014.7:g.38606192_38606193del	NCBI36
NG_012157.1:g.40998_40999del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307712.11:c.1164_1165del MANE Select	ENSP00000306881.6:p.Arg388SerfsTer11
ENST00000307712.10:c.1164_1165del	ENSP00000306881.6:p.Arg388SerfsTer11
ENST00000537403.5:c.558_559del	ENSP00000444193.1:p.Arg186SerfsTer11
ENST00000545328.6:c.1077_1078del	ENSP00000445393.2:p.Arg359SerfsTer11
NM_006364.2:c.1164_1165del	NP_006355.2:p.Arg388SerfsTer11
XM_005267262.1:c.1164_1165del	XP_005267319.1:p.Arg388SerfsTer11
XM_011536355.1:c.1164_1165del	XP_011534657.1:p.Arg388SerfsTer11
NM_006364.3:c.1164_1165del	NP_006355.2:p.Arg388SerfsTer11
XM_005267262.2:c.1164_1165del	XP_005267319.1:p.Arg388SerfsTer11
XM_011536355.3:c.1164_1165del	XP_011534657.1:p.Arg388SerfsTer11
XM_017020928.2:c.1164_1165del	XP_016876417.1:p.Arg388SerfsTer11
NM_006364.4:c.1164_1165del MANE Select	NP_006355.2:p.Arg388SerfsTer11