Canonical Allele Identifier: CA93585339

Gene: SEPSECS

Linked Data

• dbSNP Id: rs139223891
• gnomAD v2: 4-25158424-GGT-G
• gnomAD v3: 4-25156802-GGT-G
• gnomAD v4: 4-25156802-GGT-G
• MyVariant Identifiers: chr4:g.25158425_25158426del (hg19) ; chr4:g.25156803_25156804del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156815_25156816del , CM000666.2:g.25156815_25156816del	GRCh38
NC_000004.11:g.25158437_25158438del , CM000666.1:g.25158437_25158438del	GRCh37
NC_000004.10:g.24767535_24767536del	NCBI36
NG_028222.1:g.8779_8780del

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.388+52_388+53del MANE Select	ENSP00000371535.2:n.388+52_388+53del
ENST00000680581.1:c.388+52_388+53del	ENSP00000506483.1:n.388+52_388+53del
ENST00000680824.1:n.1604+52_1604+53del
ENST00000681071.1:n.680+52_680+53del
ENST00000681166.1:n.1435+52_1435+53del
ENST00000681341.1:n.1529+52_1529+53del
ENST00000681640.1:n.482+52_482+53del
ENST00000681948.1:c.643+52_643+53del	ENSP00000505991.1:n.643+52_643+53del
ENST00000358971.7:c.*186+52_*186+53del	ENSP00000351857.3:n.*186+52_*186+53del
ENST00000382103.6:c.388+52_388+53del	ENSP00000371535.2:n.388+52_388+53del
ENST00000514585.5:c.*89+52_*89+53del	ENSP00000421880.1:n.*89+52_*89+53del
NM_016955.3:c.388+52_388+53del	NP_058651.3:n.388+52_388+53del
XM_005248168.2:c.151+52_151+53del	XP_005248225.1:n.151+52_151+53del
XM_006713965.2:c.208+52_208+53del	XP_006714028.1:n.208+52_208+53del
XM_011513846.1:c.385+52_385+53del	XP_011512148.1:n.385+52_385+53del
XM_011513847.1:c.355+52_355+53del	XP_011512149.1:n.355+52_355+53del
XM_011513848.1:c.208+52_208+53del	XP_011512150.1:n.208+52_208+53del
XM_011513846.2:c.385+52_385+53del	XP_011512148.1:n.385+52_385+53del
XM_011513847.2:c.355+52_355+53del	XP_011512149.1:n.355+52_355+53del
XM_017008277.1:c.643+52_643+53del	XP_016863766.1:n.643+52_643+53del
XM_017008278.1:c.-36+52_-36+53del	XP_016863767.1:n.-36+52_-36+53del
NM_016955.4:c.388+52_388+53del MANE Select	NP_058651.3:n.388+52_388+53del