Canonical Allele Identifier: CA1060327947

Gene: SEPSECS

Linked Data

• gnomAD v3: 4-25156707-C-CAAAAAAAAAAAAAAAAAAAA
• gnomAD v4: 4-25156707-C-CAAAAAAAAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156716_25156735dup , CM000666.2:g.25156716_25156735dup	GRCh38
NC_000004.11:g.25158338_25158357dup , CM000666.1:g.25158338_25158357dup	GRCh37
NC_000004.10:g.24767436_24767455dup	NCBI36
NG_028222.1:g.8856_8875dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.388+129_388+148dup MANE Select	ENSP00000371535.2:n.388+129_388+148dup
ENST00000680581.1:c.388+129_388+148dup	ENSP00000506483.1:n.388+129_388+148dup
ENST00000680824.1:n.1604+129_1604+148dup
ENST00000681071.1:n.680+129_680+148dup
ENST00000681166.1:n.1435+129_1435+148dup
ENST00000681341.1:n.1529+129_1529+148dup
ENST00000681640.1:n.482+129_482+148dup
ENST00000681948.1:c.643+129_643+148dup	ENSP00000505991.1:n.643+129_643+148dup
ENST00000358971.7:c.*186+129_*186+148dup	ENSP00000351857.3:n.*186+129_*186+148dup
ENST00000382103.6:c.388+129_388+148dup	ENSP00000371535.2:n.388+129_388+148dup
ENST00000514585.5:c.*89+129_*89+148dup	ENSP00000421880.1:n.*89+129_*89+148dup
NM_016955.3:c.388+129_388+148dup	NP_058651.3:n.388+129_388+148dup
XM_005248168.2:c.151+129_151+148dup	XP_005248225.1:n.151+129_151+148dup
XM_006713965.2:c.208+129_208+148dup	XP_006714028.1:n.208+129_208+148dup
XM_011513846.1:c.385+129_385+148dup	XP_011512148.1:n.385+129_385+148dup
XM_011513847.1:c.355+129_355+148dup	XP_011512149.1:n.355+129_355+148dup
XM_011513848.1:c.208+129_208+148dup	XP_011512150.1:n.208+129_208+148dup
XM_011513846.2:c.385+129_385+148dup	XP_011512148.1:n.385+129_385+148dup
XM_011513847.2:c.355+129_355+148dup	XP_011512149.1:n.355+129_355+148dup
XM_017008277.1:c.643+129_643+148dup	XP_016863766.1:n.643+129_643+148dup
XM_017008278.1:c.-36+129_-36+148dup	XP_016863767.1:n.-36+129_-36+148dup
NM_016955.4:c.388+129_388+148dup MANE Select	NP_058651.3:n.388+129_388+148dup