Canonical Allele Identifier: CA1060327716

Gene: SEPSECS

Linked Data

• dbSNP Id: rs1712671599
• gnomAD v3: 4-25156706-TCAAAA-T
• gnomAD v4: 4-25156706-TCAAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156707_25156711del , CM000666.2:g.25156707_25156711del	GRCh38
NC_000004.11:g.25158329_25158333del , CM000666.1:g.25158329_25158333del	GRCh37
NC_000004.10:g.24767427_24767431del	NCBI36
NG_028222.1:g.8872_8876del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.388+145_388+149del MANE Select	ENSP00000371535.2:n.388+145_388+149del
ENST00000680581.1:c.388+145_388+149del	ENSP00000506483.1:n.388+145_388+149del
ENST00000680824.1:n.1604+145_1604+149del
ENST00000681071.1:n.680+145_680+149del
ENST00000681166.1:n.1435+145_1435+149del
ENST00000681341.1:n.1529+145_1529+149del
ENST00000681640.1:n.482+145_482+149del
ENST00000681948.1:c.643+145_643+149del	ENSP00000505991.1:n.643+145_643+149del
ENST00000358971.7:c.*186+145_*186+149del	ENSP00000351857.3:n.*186+145_*186+149del
ENST00000382103.6:c.388+145_388+149del	ENSP00000371535.2:n.388+145_388+149del
ENST00000514585.5:c.*89+145_*89+149del	ENSP00000421880.1:n.*89+145_*89+149del
NM_016955.3:c.388+145_388+149del	NP_058651.3:n.388+145_388+149del
XM_005248168.2:c.151+145_151+149del	XP_005248225.1:n.151+145_151+149del
XM_006713965.2:c.208+145_208+149del	XP_006714028.1:n.208+145_208+149del
XM_011513846.1:c.385+145_385+149del	XP_011512148.1:n.385+145_385+149del
XM_011513847.1:c.355+145_355+149del	XP_011512149.1:n.355+145_355+149del
XM_011513848.1:c.208+145_208+149del	XP_011512150.1:n.208+145_208+149del
XM_011513846.2:c.385+145_385+149del	XP_011512148.1:n.385+145_385+149del
XM_011513847.2:c.355+145_355+149del	XP_011512149.1:n.355+145_355+149del
XM_017008277.1:c.643+145_643+149del	XP_016863766.1:n.643+145_643+149del
XM_017008278.1:c.-36+145_-36+149del	XP_016863767.1:n.-36+145_-36+149del
NM_016955.4:c.388+145_388+149del MANE Select	NP_058651.3:n.388+145_388+149del