Canonical Allele Identifier: CA793294816
Gene: SEPSECS HGNC NCBI

Linked Data

dbSNP Id: rs34542574

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25156717_25156735del , CM000666.2:g.25156717_25156735del GRCh38
NC_000004.11:g.25158339_25158357del , CM000666.1:g.25158339_25158357del GRCh37
NC_000004.10:g.24767437_24767455del NCBI36
NG_028222.1:g.8857_8875del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382103.7:c.388+130_388+148del MANE Select ENSP00000371535.2:n.388+130_388+148del
ENST00000680581.1:c.388+130_388+148del ENSP00000506483.1:n.388+130_388+148del
ENST00000680824.1:n.1604+130_1604+148del
ENST00000681071.1:n.680+130_680+148del
ENST00000681166.1:n.1435+130_1435+148del
ENST00000681341.1:n.1529+130_1529+148del
ENST00000681640.1:n.482+130_482+148del
ENST00000681948.1:c.643+130_643+148del ENSP00000505991.1:n.643+130_643+148del
ENST00000358971.7:c.*186+130_*186+148del ENSP00000351857.3:n.*186+130_*186+148del
ENST00000382103.6:c.388+130_388+148del ENSP00000371535.2:n.388+130_388+148del
ENST00000514585.5:c.*89+130_*89+148del ENSP00000421880.1:n.*89+130_*89+148del
NM_016955.3:c.388+130_388+148del NP_058651.3:n.388+130_388+148del
XM_005248168.2:c.151+130_151+148del XP_005248225.1:n.151+130_151+148del
XM_006713965.2:c.208+130_208+148del XP_006714028.1:n.208+130_208+148del
XM_011513846.1:c.385+130_385+148del XP_011512148.1:n.385+130_385+148del
XM_011513847.1:c.355+130_355+148del XP_011512149.1:n.355+130_355+148del
XM_011513848.1:c.208+130_208+148del XP_011512150.1:n.208+130_208+148del
XM_011513846.2:c.385+130_385+148del XP_011512148.1:n.385+130_385+148del
XM_011513847.2:c.355+130_355+148del XP_011512149.1:n.355+130_355+148del
XM_017008277.1:c.643+130_643+148del XP_016863766.1:n.643+130_643+148del
XM_017008278.1:c.-36+130_-36+148del XP_016863767.1:n.-36+130_-36+148del
NM_016955.4:c.388+130_388+148del MANE Select NP_058651.3:n.388+130_388+148del