Canonical Allele Identifier: CA93585091

Gene: SEPSECS

Linked Data

• dbSNP Id: rs1057386553
• gnomAD v3: 4-25156613-CAGG-C
• gnomAD v4: 4-25156613-CAGG-C
• MyVariant Identifiers: chr4:g.25158236_25158238del (hg19) ; chr4:g.25156614_25156616del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156616_25156618del , CM000666.2:g.25156616_25156618del	GRCh38
NC_000004.11:g.25158238_25158240del , CM000666.1:g.25158238_25158240del	GRCh37
NC_000004.10:g.24767336_24767338del	NCBI36
NG_028222.1:g.8967_8969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.388+240_388+242del MANE Select	ENSP00000371535.2:n.388+240_388+242del
ENST00000680581.1:c.388+240_388+242del	ENSP00000506483.1:n.388+240_388+242del
ENST00000680824.1:n.1604+240_1604+242del
ENST00000681071.1:n.680+240_680+242del
ENST00000681166.1:n.1435+240_1435+242del
ENST00000681341.1:n.1529+240_1529+242del
ENST00000681640.1:n.482+240_482+242del
ENST00000681948.1:c.643+240_643+242del	ENSP00000505991.1:n.643+240_643+242del
ENST00000358971.7:c.*186+240_*186+242del	ENSP00000351857.3:n.*186+240_*186+242del
ENST00000382103.6:c.388+240_388+242del	ENSP00000371535.2:n.388+240_388+242del
ENST00000514585.5:c.*89+240_*89+242del	ENSP00000421880.1:n.*89+240_*89+242del
NM_016955.3:c.388+240_388+242del	NP_058651.3:n.388+240_388+242del
XM_005248168.2:c.151+240_151+242del	XP_005248225.1:n.151+240_151+242del
XM_006713965.2:c.208+240_208+242del	XP_006714028.1:n.208+240_208+242del
XM_011513846.1:c.385+240_385+242del	XP_011512148.1:n.385+240_385+242del
XM_011513847.1:c.355+240_355+242del	XP_011512149.1:n.355+240_355+242del
XM_011513848.1:c.208+240_208+242del	XP_011512150.1:n.208+240_208+242del
XM_011513846.2:c.385+240_385+242del	XP_011512148.1:n.385+240_385+242del
XM_011513847.2:c.355+240_355+242del	XP_011512149.1:n.355+240_355+242del
XM_017008277.1:c.643+240_643+242del	XP_016863766.1:n.643+240_643+242del
XM_017008278.1:c.-36+240_-36+242del	XP_016863767.1:n.-36+240_-36+242del
NM_016955.4:c.388+240_388+242del MANE Select	NP_058651.3:n.388+240_388+242del