Canonical Allele Identifier: CA2877285

Gene: SEPSECS

Linked Data

• ClinVar Variation Id: 1356091
• ClinVar RCV Id: RCV001867264 ; RCV002266042
• dbSNP Id: rs781277383
• ExAC: 4:25146395 CCTTT / C
• gnomAD v2: 4-25146395-CCTTT-C
• gnomAD v3: 4-25144773-CCTTT-C
• gnomAD v4: 4-25144773-CCTTT-C
• MyVariant Identifiers: chr4:g.25146396_25146399del (hg19) ; chr4:g.25144775_25144778del (hg38) ; chr4:g.25144774_25144777del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144782_25144785del , CM000666.2:g.25144782_25144785del	GRCh38
NC_000004.11:g.25146404_25146407del , CM000666.1:g.25146404_25146407del	GRCh37
NC_000004.10:g.24755502_24755505del	NCBI36
NG_028222.1:g.20806_20809del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.1023_1026del MANE Select	ENSP00000371535.2:p.Glu343CysfsTer9
ENST00000680581.1:c.1023_1026del	ENSP00000506483.1:p.Arg341SerfsTer5
ENST00000680824.1:n.2239_2242del
ENST00000681071.1:n.1315_1318del
ENST00000681341.1:n.2164_2167del
ENST00000681948.1:c.1278_1281del	ENSP00000505991.1:p.Glu428CysfsTer9
ENST00000358971.7:c.*821_*824del	ENSP00000351857.3:n.*821_*824del
ENST00000382103.6:c.1023_1026del	ENSP00000371535.2:p.Glu343CysfsTer9
ENST00000503150.1:c.305_308del
ENST00000505513.1:n.323_326del
ENST00000514585.5:c.*724_*727del	ENSP00000421880.1:n.*724_*727del
NM_016955.3:c.1023_1026del	NP_058651.3:p.Glu343CysfsTer9
XM_005248168.2:c.786_789del	XP_005248225.1:p.Glu264CysfsTer9
XM_006713965.2:c.843_846del	XP_006714028.1:p.Glu283CysfsTer9
XM_011513846.1:c.1020_1023del	XP_011512148.1:p.Glu342CysfsTer9
XM_011513847.1:c.990_993del	XP_011512149.1:p.Glu332CysfsTer9
XM_011513848.1:c.843_846del	XP_011512150.1:p.Glu283CysfsTer9
XM_011513846.2:c.1020_1023del	XP_011512148.1:p.Glu342CysfsTer9
XM_011513847.2:c.990_993del	XP_011512149.1:p.Glu332CysfsTer9
XM_017008277.1:c.1278_1281del	XP_016863766.1:p.Glu428CysfsTer9
XM_017008278.1:c.600_603del	XP_016863767.1:p.Glu202CysfsTer9
NM_016955.4:c.1023_1026del MANE Select	NP_058651.3:p.Glu343CysfsTer9