Canonical Allele Identifier: CA2697553922

Gene: SEC23A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.39048697del , CM000676.2:g.39048697del	GRCh38
NC_000014.8:g.39517901del , CM000676.1:g.39517901del	GRCh37
NC_000014.7:g.38587652del	NCBI36
NG_012157.1:g.59539del

Transcript Alleles

HGVS	Amino-acid Change
NM_006364.4:c.1694del MANE Select	NP_006355.2:p.Pro565GlnfsTer20
ENST00000307712.11:c.1694del MANE Select	ENSP00000306881.6:p.Pro565GlnfsTer20
NM_006364.2:c.1694del	NP_006355.2:p.Pro565GlnfsTer20
NM_006364.3:c.1694del	NP_006355.2:p.Pro565GlnfsTer20
ENST00000307712.10:c.1694del	ENSP00000306881.6:p.Pro565GlnfsTer20
ENST00000537403.5:c.1088del	ENSP00000444193.1:p.Pro363GlnfsTer20
ENST00000545328.6:c.1607del	ENSP00000445393.2:p.Pro536GlnfsTer20
XM_005267262.1:c.1694del	XP_005267319.1:p.Pro565GlnfsTer?
XM_005267262.2:c.1694del	XP_005267319.1:p.Pro565GlnfsTer?
XM_011536355.1:c.1694del	XP_011534657.1:p.Pro565GlnfsTer?
XM_011536355.3:c.1694del	XP_011534657.1:p.Pro565GlnfsTer?
XM_017020928.2:c.1694del	XP_016876417.1:p.Pro565GlnfsTer20