Canonical Allele Identifier: CA438732692

Gene: SEPSECS

Linked Data

• dbSNP Id: rs1712676826
• gnomAD v3: 4-25156734-AAG-A
• gnomAD v4: 4-25156734-AAG-A
• MyVariant Identifiers: chr4:g.25158357_25158358del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156736_25156737del , CM000666.2:g.25156736_25156737del	GRCh38
NC_000004.11:g.25158358_25158359del , CM000666.1:g.25158358_25158359del	GRCh37
NC_000004.10:g.24767456_24767457del	NCBI36
NG_028222.1:g.8847_8848del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.388+120_388+121del MANE Select	ENSP00000371535.2:n.388+120_388+121del
ENST00000680581.1:c.388+120_388+121del	ENSP00000506483.1:n.388+120_388+121del
ENST00000680824.1:n.1604+120_1604+121del
ENST00000681071.1:n.680+120_680+121del
ENST00000681166.1:n.1435+120_1435+121del
ENST00000681341.1:n.1529+120_1529+121del
ENST00000681640.1:n.482+120_482+121del
ENST00000681948.1:c.643+120_643+121del	ENSP00000505991.1:n.643+120_643+121del
ENST00000358971.7:c.*186+120_*186+121del	ENSP00000351857.3:n.*186+120_*186+121del
ENST00000382103.6:c.388+120_388+121del	ENSP00000371535.2:n.388+120_388+121del
ENST00000514585.5:c.*89+120_*89+121del	ENSP00000421880.1:n.*89+120_*89+121del
NM_016955.3:c.388+120_388+121del	NP_058651.3:n.388+120_388+121del
XM_005248168.2:c.151+120_151+121del	XP_005248225.1:n.151+120_151+121del
XM_006713965.2:c.208+120_208+121del	XP_006714028.1:n.208+120_208+121del
XM_011513846.1:c.385+120_385+121del	XP_011512148.1:n.385+120_385+121del
XM_011513847.1:c.355+120_355+121del	XP_011512149.1:n.355+120_355+121del
XM_011513848.1:c.208+120_208+121del	XP_011512150.1:n.208+120_208+121del
XM_011513846.2:c.385+120_385+121del	XP_011512148.1:n.385+120_385+121del
XM_011513847.2:c.355+120_355+121del	XP_011512149.1:n.355+120_355+121del
XM_017008277.1:c.643+120_643+121del	XP_016863766.1:n.643+120_643+121del
XM_017008278.1:c.-36+120_-36+121del	XP_016863767.1:n.-36+120_-36+121del
NM_016955.4:c.388+120_388+121del MANE Select	NP_058651.3:n.388+120_388+121del