Canonical Allele Identifier: CA793294853

Gene: SEPSECS

Linked Data

• dbSNP Id: rs34542574
• gnomAD v3: 4-25156707-CAAAAAA-C
• gnomAD v4: 4-25156707-CAAAAAA-C
• MyVariant Identifiers: chr4:g.25158330_25158335del (hg19) ; chr4:g.25156708_25156713del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156730_25156735del , CM000666.2:g.25156730_25156735del	GRCh38
NC_000004.11:g.25158352_25158357del , CM000666.1:g.25158352_25158357del	GRCh37
NC_000004.10:g.24767450_24767455del	NCBI36
NG_028222.1:g.8870_8875del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.388+143_388+148del MANE Select	ENSP00000371535.2:n.388+143_388+148del
ENST00000680581.1:c.388+143_388+148del	ENSP00000506483.1:n.388+143_388+148del
ENST00000680824.1:n.1604+143_1604+148del
ENST00000681071.1:n.680+143_680+148del
ENST00000681166.1:n.1435+143_1435+148del
ENST00000681341.1:n.1529+143_1529+148del
ENST00000681640.1:n.482+143_482+148del
ENST00000681948.1:c.643+143_643+148del	ENSP00000505991.1:n.643+143_643+148del
ENST00000358971.7:c.*186+143_*186+148del	ENSP00000351857.3:n.*186+143_*186+148del
ENST00000382103.6:c.388+143_388+148del	ENSP00000371535.2:n.388+143_388+148del
ENST00000514585.5:c.*89+143_*89+148del	ENSP00000421880.1:n.*89+143_*89+148del
NM_016955.3:c.388+143_388+148del	NP_058651.3:n.388+143_388+148del
XM_005248168.2:c.151+143_151+148del	XP_005248225.1:n.151+143_151+148del
XM_006713965.2:c.208+143_208+148del	XP_006714028.1:n.208+143_208+148del
XM_011513846.1:c.385+143_385+148del	XP_011512148.1:n.385+143_385+148del
XM_011513847.1:c.355+143_355+148del	XP_011512149.1:n.355+143_355+148del
XM_011513848.1:c.208+143_208+148del	XP_011512150.1:n.208+143_208+148del
XM_011513846.2:c.385+143_385+148del	XP_011512148.1:n.385+143_385+148del
XM_011513847.2:c.355+143_355+148del	XP_011512149.1:n.355+143_355+148del
XM_017008277.1:c.643+143_643+148del	XP_016863766.1:n.643+143_643+148del
XM_017008278.1:c.-36+143_-36+148del	XP_016863767.1:n.-36+143_-36+148del
NM_016955.4:c.388+143_388+148del MANE Select	NP_058651.3:n.388+143_388+148del