Canonical Allele Identifier: CA2578058288

Gene: SEPSECS

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144843del , CM000666.2:g.25144843del	GRCh38
NC_000004.11:g.25146465del , CM000666.1:g.25146465del	GRCh37
NC_000004.10:g.24755563del	NCBI36
NG_028222.1:g.20742del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.959del MANE Select	ENSP00000371535.2:p.Leu320Ter
ENST00000680581.1:c.959del	ENSP00000506483.1:p.Leu320Ter
ENST00000680824.1:n.2175del
ENST00000681071.1:n.1251del
ENST00000681341.1:n.2100del
ENST00000681948.1:c.1214del	ENSP00000505991.1:p.Leu405Ter
ENST00000358971.7:c.*757del	ENSP00000351857.3:n.*757del
ENST00000382103.6:c.959del	ENSP00000371535.2:p.Leu320Ter
ENST00000503150.1:c.241del
ENST00000505513.1:n.259del
ENST00000514585.5:c.*660del	ENSP00000421880.1:n.*660del
NM_016955.3:c.959del	NP_058651.3:p.Leu320Ter
XM_005248168.2:c.722del	XP_005248225.1:p.Leu241Ter
XM_006713965.2:c.779del	XP_006714028.1:p.Leu260Ter
XM_011513846.1:c.956del	XP_011512148.1:p.Leu319Ter
XM_011513847.1:c.926del	XP_011512149.1:p.Leu309Ter
XM_011513848.1:c.779del	XP_011512150.1:p.Leu260Ter
XM_011513846.2:c.956del	XP_011512148.1:p.Leu319Ter
XM_011513847.2:c.926del	XP_011512149.1:p.Leu309Ter
XM_017008277.1:c.1214del	XP_016863766.1:p.Leu405Ter
XM_017008278.1:c.536del	XP_016863767.1:p.Leu179Ter
NM_016955.4:c.959del MANE Select	NP_058651.3:p.Leu320Ter