Canonical Allele Identifier: CA1445222847
Gene: SEPSECS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25144346_25144347delinsAG , CM000666.2:g.25144346_25144347delinsAG GRCh38
NC_000004.11:g.25145968_25145969delinsAG , CM000666.1:g.25145968_25145969delinsAG GRCh37
NC_000004.10:g.24755066_24755067delinsAG NCBI36
NG_028222.1:g.21236_21237delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000382103.7:c.1026+427_1026+428delinsCT MANE Select ENSP00000371535.2:n.1026+427_1026+428delinsCT
ENST00000680581.1:c.1026+427_1026+428delinsCT ENSP00000506483.1:n.1026+427_1026+428delinsCT
ENST00000680824.1:n.2242+427_2242+428delinsCT
ENST00000681071.1:n.1318+427_1318+428delinsCT
ENST00000681341.1:n.2167+427_2167+428delinsCT
ENST00000681948.1:c.1281+427_1281+428delinsCT ENSP00000505991.1:n.1281+427_1281+428delinsCT
ENST00000358971.7:c.*824+427_*824+428delinsCT ENSP00000351857.3:n.*824+427_*824+428delinsCT
ENST00000382103.6:c.1026+427_1026+428delinsCT ENSP00000371535.2:n.1026+427_1026+428delinsCT
ENST00000503150.1:c.308+427_308+428delinsCT
ENST00000505513.1:n.326+427_326+428delinsCT
ENST00000514585.5:c.*727+427_*727+428delinsCT ENSP00000421880.1:n.*727+427_*727+428delinsCT
NM_016955.3:c.1026+427_1026+428delinsCT NP_058651.3:n.1026+427_1026+428delinsCT
XM_005248168.2:c.789+427_789+428delinsCT XP_005248225.1:n.789+427_789+428delinsCT
XM_006713965.2:c.846+427_846+428delinsCT XP_006714028.1:n.846+427_846+428delinsCT
XM_011513846.1:c.1023+427_1023+428delinsCT XP_011512148.1:n.1023+427_1023+428delinsCT
XM_011513847.1:c.993+427_993+428delinsCT XP_011512149.1:n.993+427_993+428delinsCT
XM_011513848.1:c.846+427_846+428delinsCT XP_011512150.1:n.846+427_846+428delinsCT
XM_011513846.2:c.1023+427_1023+428delinsCT XP_011512148.1:n.1023+427_1023+428delinsCT
XM_011513847.2:c.993+427_993+428delinsCT XP_011512149.1:n.993+427_993+428delinsCT
XM_017008277.1:c.1281+427_1281+428delinsCT XP_016863766.1:n.1281+427_1281+428delinsCT
XM_017008278.1:c.603+427_603+428delinsCT XP_016863767.1:n.603+427_603+428delinsCT
NM_016955.4:c.1026+427_1026+428delinsCT MANE Select NP_058651.3:n.1026+427_1026+428delinsCT