Canonical Allele Identifier: CA1445208270
Gene: SEPSECS HGNC NCBI

Linked Data

dbSNP Id: rs1712671322

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25156707_25156708del , CM000666.2:g.25156707_25156708del GRCh38
NC_000004.11:g.25158329_25158330del , CM000666.1:g.25158329_25158330del GRCh37
NC_000004.10:g.24767427_24767428del NCBI36
NG_028222.1:g.8875_8876del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382103.7:c.388+148_388+149del MANE Select ENSP00000371535.2:n.388+148_388+149del
ENST00000680581.1:c.388+148_388+149del ENSP00000506483.1:n.388+148_388+149del
ENST00000680824.1:n.1604+148_1604+149del
ENST00000681071.1:n.680+148_680+149del
ENST00000681166.1:n.1435+148_1435+149del
ENST00000681341.1:n.1529+148_1529+149del
ENST00000681640.1:n.482+148_482+149del
ENST00000681948.1:c.643+148_643+149del ENSP00000505991.1:n.643+148_643+149del
ENST00000358971.7:c.*186+148_*186+149del ENSP00000351857.3:n.*186+148_*186+149del
ENST00000382103.6:c.388+148_388+149del ENSP00000371535.2:n.388+148_388+149del
ENST00000514585.5:c.*89+148_*89+149del ENSP00000421880.1:n.*89+148_*89+149del
NM_016955.3:c.388+148_388+149del NP_058651.3:n.388+148_388+149del
XM_005248168.2:c.151+148_151+149del XP_005248225.1:n.151+148_151+149del
XM_006713965.2:c.208+148_208+149del XP_006714028.1:n.208+148_208+149del
XM_011513846.1:c.385+148_385+149del XP_011512148.1:n.385+148_385+149del
XM_011513847.1:c.355+148_355+149del XP_011512149.1:n.355+148_355+149del
XM_011513848.1:c.208+148_208+149del XP_011512150.1:n.208+148_208+149del
XM_011513846.2:c.385+148_385+149del XP_011512148.1:n.385+148_385+149del
XM_011513847.2:c.355+148_355+149del XP_011512149.1:n.355+148_355+149del
XM_017008277.1:c.643+148_643+149del XP_016863766.1:n.643+148_643+149del
XM_017008278.1:c.-36+148_-36+149del XP_016863767.1:n.-36+148_-36+149del
NM_016955.4:c.388+148_388+149del MANE Select NP_058651.3:n.388+148_388+149del