Canonical Allele Identifier: CA793320034

Gene: SEPSECS

Linked Data

• ClinVar Variation Id: 2800329
• ClinVar RCV Id: RCV003671454
• dbSNP Id: rs1483752327
• MyVariant Identifiers: chr4:g.25146378del (hg19) ; chr4:g.25144756del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144757del , CM000666.2:g.25144757del	GRCh38
NC_000004.11:g.25146379del , CM000666.1:g.25146379del	GRCh37
NC_000004.10:g.24755477del	NCBI36
NG_028222.1:g.20827del

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.1026+18del MANE Select	ENSP00000371535.2:n.1026+18del
ENST00000680581.1:c.1026+18del	ENSP00000506483.1:n.1026+18del
ENST00000680824.1:n.2242+18del
ENST00000681071.1:n.1318+18del
ENST00000681341.1:n.2167+18del
ENST00000681948.1:c.1281+18del	ENSP00000505991.1:n.1281+18del
ENST00000358971.7:c.*824+18del	ENSP00000351857.3:n.*824+18del
ENST00000382103.6:c.1026+18del	ENSP00000371535.2:n.1026+18del
ENST00000503150.1:c.308+18del
ENST00000505513.1:n.326+18del
ENST00000514585.5:c.*727+18del	ENSP00000421880.1:n.*727+18del
NM_016955.3:c.1026+18del	NP_058651.3:n.1026+18del
XM_005248168.2:c.789+18del	XP_005248225.1:n.789+18del
XM_006713965.2:c.846+18del	XP_006714028.1:n.846+18del
XM_011513846.1:c.1023+18del	XP_011512148.1:n.1023+18del
XM_011513847.1:c.993+18del	XP_011512149.1:n.993+18del
XM_011513848.1:c.846+18del	XP_011512150.1:n.846+18del
XM_011513846.2:c.1023+18del	XP_011512148.1:n.1023+18del
XM_011513847.2:c.993+18del	XP_011512149.1:n.993+18del
XM_017008277.1:c.1281+18del	XP_016863766.1:n.1281+18del
XM_017008278.1:c.603+18del	XP_016863767.1:n.603+18del
NM_016955.4:c.1026+18del MANE Select	NP_058651.3:n.1026+18del