Canonical Allele Identifier: CA1445208694
Gene: SEPSECS HGNC NCBI

Linked Data

dbSNP Id: rs1712690122

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25156869_25156871del , CM000666.2:g.25156869_25156871del GRCh38
NC_000004.11:g.25158491_25158493del , CM000666.1:g.25158491_25158493del GRCh37
NC_000004.10:g.24767589_24767591del NCBI36
NG_028222.1:g.8714_8716del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382103.7:c.375_377del MANE Select ENSP00000371535.2:p.Ile126del
ENST00000680581.1:c.375_377del ENSP00000506483.1:p.Ile126del
ENST00000680824.1:n.1591_1593del
ENST00000681071.1:n.667_669del
ENST00000681166.1:n.1422_1424del
ENST00000681341.1:n.1516_1518del
ENST00000681640.1:n.469_471del
ENST00000681948.1:c.630_632del ENSP00000505991.1:p.Ile211del
ENST00000358971.7:c.*173_*175del ENSP00000351857.3:n.*173_*175del
ENST00000382103.6:c.375_377del ENSP00000371535.2:p.Ile126del
ENST00000514585.5:c.*76_*78del ENSP00000421880.1:n.*76_*78del
NM_016955.3:c.375_377del NP_058651.3:p.Ile126del
XM_005248168.2:c.138_140del XP_005248225.1:p.Ile47del
XM_006713965.2:c.195_197del XP_006714028.1:p.Ile66del
XM_011513846.1:c.372_374del XP_011512148.1:p.Ile125del
XM_011513847.1:c.342_344del XP_011512149.1:p.Ile115del
XM_011513848.1:c.195_197del XP_011512150.1:p.Ile66del
XM_011513846.2:c.372_374del XP_011512148.1:p.Ile125del
XM_011513847.2:c.342_344del XP_011512149.1:p.Ile115del
XM_017008277.1:c.630_632del XP_016863766.1:p.Ile211del
XM_017008278.1:c.-49_-47del XP_016863767.1:n.-49_-47del
NM_016955.4:c.375_377del MANE Select NP_058651.3:p.Ile126del