Canonical Allele Identifier: CA2739270048

Gene: SEPSECS

Linked Data

• ClinVar Variation Id: 2836906
• ClinVar RCV Id: RCV003692299

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144755del , CM000666.2:g.25144755del	GRCh38
NC_000004.11:g.25146377del , CM000666.1:g.25146377del	GRCh37
NC_000004.10:g.24755475del	NCBI36
NG_028222.1:g.20828del

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.1026+19del MANE Select	ENSP00000371535.2:n.1026+19del
ENST00000680581.1:c.1026+19del	ENSP00000506483.1:n.1026+19del
ENST00000680824.1:n.2242+19del
ENST00000681071.1:n.1318+19del
ENST00000681341.1:n.2167+19del
ENST00000681948.1:c.1281+19del	ENSP00000505991.1:n.1281+19del
ENST00000358971.7:c.*824+19del	ENSP00000351857.3:n.*824+19del
ENST00000382103.6:c.1026+19del	ENSP00000371535.2:n.1026+19del
ENST00000503150.1:c.308+19del
ENST00000505513.1:n.326+19del
ENST00000514585.5:c.*727+19del	ENSP00000421880.1:n.*727+19del
NM_016955.3:c.1026+19del	NP_058651.3:n.1026+19del
XM_005248168.2:c.789+19del	XP_005248225.1:n.789+19del
XM_006713965.2:c.846+19del	XP_006714028.1:n.846+19del
XM_011513846.1:c.1023+19del	XP_011512148.1:n.1023+19del
XM_011513847.1:c.993+19del	XP_011512149.1:n.993+19del
XM_011513848.1:c.846+19del	XP_011512150.1:n.846+19del
XM_011513846.2:c.1023+19del	XP_011512148.1:n.1023+19del
XM_011513847.2:c.993+19del	XP_011512149.1:n.993+19del
XM_017008277.1:c.1281+19del	XP_016863766.1:n.1281+19del
XM_017008278.1:c.603+19del	XP_016863767.1:n.603+19del
NM_016955.4:c.1026+19del MANE Select	NP_058651.3:n.1026+19del