Canonical Allele Identifier: CA93584617

Gene: SEPSECS

Linked Data

• ClinVar Variation Id: 1263199
• ClinVar RCV Id: RCV001672016
• dbSNP Id: rs10709028
• gnomAD v2: 4-25158025-TA-T
• gnomAD v3: 4-25156403-TA-T
• gnomAD v4: 4-25156403-TA-T
• MyVariant Identifiers: chr4:g.25158027del (hg19) ; chr4:g.25158026del (hg19) ; chr4:g.25156405del (hg38) ; chr4:g.25156404del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156414del , CM000666.2:g.25156414del	GRCh38
NC_000004.11:g.25158036del , CM000666.1:g.25158036del	GRCh37
NC_000004.10:g.24767134del	NCBI36
NG_028222.1:g.9179del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.389-209del MANE Select	ENSP00000371535.2:n.389-209del
ENST00000680581.1:c.389-209del	ENSP00000506483.1:n.389-209del
ENST00000680824.1:n.1605-209del
ENST00000681071.1:n.681-209del
ENST00000681166.1:n.1436-209del
ENST00000681341.1:n.1530-209del
ENST00000681640.1:n.483-209del
ENST00000681948.1:c.644-209del	ENSP00000505991.1:n.644-209del
ENST00000358971.7:c.*187-209del	ENSP00000351857.3:n.*187-209del
ENST00000382103.6:c.389-209del	ENSP00000371535.2:n.389-209del
ENST00000514585.5:c.*90-209del	ENSP00000421880.1:n.*90-209del
NM_016955.3:c.389-209del	NP_058651.3:n.389-209del
XM_005248168.2:c.152-209del	XP_005248225.1:n.152-209del
XM_006713965.2:c.209-209del	XP_006714028.1:n.209-209del
XM_011513846.1:c.386-209del	XP_011512148.1:n.386-209del
XM_011513847.1:c.356-209del	XP_011512149.1:n.356-209del
XM_011513848.1:c.209-209del	XP_011512150.1:n.209-209del
XM_011513846.2:c.386-209del	XP_011512148.1:n.386-209del
XM_011513847.2:c.356-209del	XP_011512149.1:n.356-209del
XM_017008277.1:c.644-209del	XP_016863766.1:n.644-209del
XM_017008278.1:c.-35-209del	XP_016863767.1:n.-35-209del
NM_016955.4:c.389-209del MANE Select	NP_058651.3:n.389-209del