Canonical Allele Identifier: CA2578058287

Gene: SEPSECS

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144785_25144786del , CM000666.2:g.25144785_25144786del	GRCh38
NC_000004.11:g.25146407_25146408del , CM000666.1:g.25146407_25146408del	GRCh37
NC_000004.10:g.24755505_24755506del	NCBI36
NG_028222.1:g.20799_20800del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.1016_1017del MANE Select	ENSP00000371535.2:p.Lys339ArgfsTer22
ENST00000680581.1:c.1016_1017del	ENSP00000506483.1:p.Lys339ArgfsTer?
ENST00000680824.1:n.2232_2233del
ENST00000681071.1:n.1308_1309del
ENST00000681341.1:n.2157_2158del
ENST00000681948.1:c.1271_1272del	ENSP00000505991.1:p.Lys424ArgfsTer22
ENST00000358971.7:c.*814_*815del	ENSP00000351857.3:n.*814_*815del
ENST00000382103.6:c.1016_1017del	ENSP00000371535.2:p.Lys339ArgfsTer22
ENST00000503150.1:c.298_299del
ENST00000505513.1:n.316_317del
ENST00000514585.5:c.*717_*718del	ENSP00000421880.1:n.*717_*718del
NM_016955.3:c.1016_1017del	NP_058651.3:p.Lys339ArgfsTer22
XM_005248168.2:c.779_780del	XP_005248225.1:p.Lys260ArgfsTer22
XM_006713965.2:c.836_837del	XP_006714028.1:p.Lys279ArgfsTer22
XM_011513846.1:c.1013_1014del	XP_011512148.1:p.Lys338ArgfsTer22
XM_011513847.1:c.983_984del	XP_011512149.1:p.Lys328ArgfsTer22
XM_011513848.1:c.836_837del	XP_011512150.1:p.Lys279ArgfsTer22
XM_011513846.2:c.1013_1014del	XP_011512148.1:p.Lys338ArgfsTer22
XM_011513847.2:c.983_984del	XP_011512149.1:p.Lys328ArgfsTer22
XM_017008277.1:c.1271_1272del	XP_016863766.1:p.Lys424ArgfsTer22
XM_017008278.1:c.593_594del	XP_016863767.1:p.Lys198ArgfsTer22
NM_016955.4:c.1016_1017del MANE Select	NP_058651.3:p.Lys339ArgfsTer22