Canonical Allele Identifier: CA2760763926
Gene: SEPSECS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25144324_25144326del , CM000666.2:g.25144324_25144326del GRCh38
NC_000004.11:g.25145946_25145948del , CM000666.1:g.25145946_25145948del GRCh37
NC_000004.10:g.24755044_24755046del NCBI36
NG_028222.1:g.21257_21259del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382103.7:c.1026+448_1026+450del MANE Select ENSP00000371535.2:n.1026+448_1026+450del
ENST00000680581.1:c.1026+448_1026+450del ENSP00000506483.1:n.1026+448_1026+450del
ENST00000680824.1:n.2242+448_2242+450del
ENST00000681071.1:n.1318+448_1318+450del
ENST00000681341.1:n.2167+448_2167+450del
ENST00000681948.1:c.1281+448_1281+450del ENSP00000505991.1:n.1281+448_1281+450del
ENST00000358971.7:c.*824+448_*824+450del ENSP00000351857.3:n.*824+448_*824+450del
ENST00000382103.6:c.1026+448_1026+450del ENSP00000371535.2:n.1026+448_1026+450del
ENST00000503150.1:c.308+448_308+450del
ENST00000505513.1:n.326+448_326+450del
ENST00000514585.5:c.*727+448_*727+450del ENSP00000421880.1:n.*727+448_*727+450del
NM_016955.3:c.1026+448_1026+450del NP_058651.3:n.1026+448_1026+450del
XM_005248168.2:c.789+448_789+450del XP_005248225.1:n.789+448_789+450del
XM_006713965.2:c.846+448_846+450del XP_006714028.1:n.846+448_846+450del
XM_011513846.1:c.1023+448_1023+450del XP_011512148.1:n.1023+448_1023+450del
XM_011513847.1:c.993+448_993+450del XP_011512149.1:n.993+448_993+450del
XM_011513848.1:c.846+448_846+450del XP_011512150.1:n.846+448_846+450del
XM_011513846.2:c.1023+448_1023+450del XP_011512148.1:n.1023+448_1023+450del
XM_011513847.2:c.993+448_993+450del XP_011512149.1:n.993+448_993+450del
XM_017008277.1:c.1281+448_1281+450del XP_016863766.1:n.1281+448_1281+450del
XM_017008278.1:c.603+448_603+450del XP_016863767.1:n.603+448_603+450del
NM_016955.4:c.1026+448_1026+450del MANE Select NP_058651.3:n.1026+448_1026+450del