Canonical Allele Identifier: CA2670197191

Gene: SEPSECS

Linked Data

• gnomAD v4: 4-25156739-GTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156741_25156742del , CM000666.2:g.25156741_25156742del	GRCh38
NC_000004.11:g.25158363_25158364del , CM000666.1:g.25158363_25158364del	GRCh37
NC_000004.10:g.24767461_24767462del	NCBI36
NG_028222.1:g.8842_8843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.388+115_388+116del MANE Select	ENSP00000371535.2:n.388+115_388+116del
ENST00000680581.1:c.388+115_388+116del	ENSP00000506483.1:n.388+115_388+116del
ENST00000680824.1:n.1604+115_1604+116del
ENST00000681071.1:n.680+115_680+116del
ENST00000681166.1:n.1435+115_1435+116del
ENST00000681341.1:n.1529+115_1529+116del
ENST00000681640.1:n.482+115_482+116del
ENST00000681948.1:c.643+115_643+116del	ENSP00000505991.1:n.643+115_643+116del
ENST00000358971.7:c.*186+115_*186+116del	ENSP00000351857.3:n.*186+115_*186+116del
ENST00000382103.6:c.388+115_388+116del	ENSP00000371535.2:n.388+115_388+116del
ENST00000514585.5:c.*89+115_*89+116del	ENSP00000421880.1:n.*89+115_*89+116del
NM_016955.3:c.388+115_388+116del	NP_058651.3:n.388+115_388+116del
XM_005248168.2:c.151+115_151+116del	XP_005248225.1:n.151+115_151+116del
XM_006713965.2:c.208+115_208+116del	XP_006714028.1:n.208+115_208+116del
XM_011513846.1:c.385+115_385+116del	XP_011512148.1:n.385+115_385+116del
XM_011513847.1:c.355+115_355+116del	XP_011512149.1:n.355+115_355+116del
XM_011513848.1:c.208+115_208+116del	XP_011512150.1:n.208+115_208+116del
XM_011513846.2:c.385+115_385+116del	XP_011512148.1:n.385+115_385+116del
XM_011513847.2:c.355+115_355+116del	XP_011512149.1:n.355+115_355+116del
XM_017008277.1:c.643+115_643+116del	XP_016863766.1:n.643+115_643+116del
XM_017008278.1:c.-36+115_-36+116del	XP_016863767.1:n.-36+115_-36+116del
NM_016955.4:c.388+115_388+116del MANE Select	NP_058651.3:n.388+115_388+116del