Canonical Allele Identifier: CA550289863

Gene: SEPSECS

Linked Data

• gnomAD v2: 4-25158390-TGGAAAGGGGCA-T
• MyVariant Identifiers: chr4:g.25158391_25158401del (hg19) ; chr4:g.25156769_25156779del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156769_25156779del , CM000666.2:g.25156769_25156779del	GRCh38
NC_000004.11:g.25158391_25158401del , CM000666.1:g.25158391_25158401del	GRCh37
NC_000004.10:g.24767489_24767499del	NCBI36
NG_028222.1:g.8804_8814del

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.388+77_388+87del MANE Select	ENSP00000371535.2:n.388+77_388+87del
ENST00000680581.1:c.388+77_388+87del	ENSP00000506483.1:n.388+77_388+87del
ENST00000680824.1:n.1604+77_1604+87del
ENST00000681071.1:n.680+77_680+87del
ENST00000681166.1:n.1435+77_1435+87del
ENST00000681341.1:n.1529+77_1529+87del
ENST00000681640.1:n.482+77_482+87del
ENST00000681948.1:c.643+77_643+87del	ENSP00000505991.1:n.643+77_643+87del
ENST00000358971.7:c.*186+77_*186+87del	ENSP00000351857.3:n.*186+77_*186+87del
ENST00000382103.6:c.388+77_388+87del	ENSP00000371535.2:n.388+77_388+87del
ENST00000514585.5:c.*89+77_*89+87del	ENSP00000421880.1:n.*89+77_*89+87del
NM_016955.3:c.388+77_388+87del	NP_058651.3:n.388+77_388+87del
XM_005248168.2:c.151+77_151+87del	XP_005248225.1:n.151+77_151+87del
XM_006713965.2:c.208+77_208+87del	XP_006714028.1:n.208+77_208+87del
XM_011513846.1:c.385+77_385+87del	XP_011512148.1:n.385+77_385+87del
XM_011513847.1:c.355+77_355+87del	XP_011512149.1:n.355+77_355+87del
XM_011513848.1:c.208+77_208+87del	XP_011512150.1:n.208+77_208+87del
XM_011513846.2:c.385+77_385+87del	XP_011512148.1:n.385+77_385+87del
XM_011513847.2:c.355+77_355+87del	XP_011512149.1:n.355+77_355+87del
XM_017008277.1:c.643+77_643+87del	XP_016863766.1:n.643+77_643+87del
XM_017008278.1:c.-36+77_-36+87del	XP_016863767.1:n.-36+77_-36+87del
NM_016955.4:c.388+77_388+87del MANE Select	NP_058651.3:n.388+77_388+87del