Canonical Allele Identifier: CA2517625905
Gene: SEPSECS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25144650_25144657del , CM000666.2:g.25144650_25144657del GRCh38
NC_000004.11:g.25146272_25146279del , CM000666.1:g.25146272_25146279del GRCh37
NC_000004.10:g.24755370_24755377del NCBI36
NG_028222.1:g.20926_20933del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382103.7:c.1026+117_1026+124del MANE Select ENSP00000371535.2:n.1026+117_1026+124del
ENST00000680581.1:c.1026+117_1026+124del ENSP00000506483.1:n.1026+117_1026+124del
ENST00000680824.1:n.2242+117_2242+124del
ENST00000681071.1:n.1318+117_1318+124del
ENST00000681341.1:n.2167+117_2167+124del
ENST00000681948.1:c.1281+117_1281+124del ENSP00000505991.1:n.1281+117_1281+124del
ENST00000358971.7:c.*824+117_*824+124del ENSP00000351857.3:n.*824+117_*824+124del
ENST00000382103.6:c.1026+117_1026+124del ENSP00000371535.2:n.1026+117_1026+124del
ENST00000503150.1:c.308+117_308+124del
ENST00000505513.1:n.326+117_326+124del
ENST00000514585.5:c.*727+117_*727+124del ENSP00000421880.1:n.*727+117_*727+124del
NM_016955.3:c.1026+117_1026+124del NP_058651.3:n.1026+117_1026+124del
XM_005248168.2:c.789+117_789+124del XP_005248225.1:n.789+117_789+124del
XM_006713965.2:c.846+117_846+124del XP_006714028.1:n.846+117_846+124del
XM_011513846.1:c.1023+117_1023+124del XP_011512148.1:n.1023+117_1023+124del
XM_011513847.1:c.993+117_993+124del XP_011512149.1:n.993+117_993+124del
XM_011513848.1:c.846+117_846+124del XP_011512150.1:n.846+117_846+124del
XM_011513846.2:c.1023+117_1023+124del XP_011512148.1:n.1023+117_1023+124del
XM_011513847.2:c.993+117_993+124del XP_011512149.1:n.993+117_993+124del
XM_017008277.1:c.1281+117_1281+124del XP_016863766.1:n.1281+117_1281+124del
XM_017008278.1:c.603+117_603+124del XP_016863767.1:n.603+117_603+124del
NM_016955.4:c.1026+117_1026+124del MANE Select NP_058651.3:n.1026+117_1026+124del