Canonical Allele Identifier: CA10620816

Gene: SEPSECS

Linked Data

• ClinVar Variation Id: 348550
• ClinVar RCV Id: RCV000334763 ; RCV001547375
• dbSNP Id: rs140928773
• gnomAD v2: 4-25125316-C-CAAA
• gnomAD v3: 4-25123694-C-CAAA
• gnomAD v4: 4-25123694-C-CAAA
• MyVariant Identifiers: chr4:g.25125316_25125317insAAA (hg19) ; chr4:g.25123694_25123695insAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25123696_25123697insAAA , CM000666.2:g.25123696_25123697insAAA	GRCh38
NC_000004.11:g.25125318_25125319insAAA , CM000666.1:g.25125318_25125319insAAA	GRCh37
NC_000004.10:g.24734416_24734417insAAA	NCBI36
NG_028222.1:g.41888_41889insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.*236_*237insTTT MANE Select	ENSP00000371535.2:n.*236_*237insTTT
ENST00000680581.1:c.*616_*617insTTT	ENSP00000506483.1:n.*616_*617insTTT
ENST00000680824.1:n.2958_2959insTTT
ENST00000681071.1:n.2034_2035insTTT
ENST00000681341.1:n.2789_2790insTTT
ENST00000681374.1:n.1098_1099insTTT
ENST00000681948.1:c.*236_*237insTTT	ENSP00000505991.1:n.*236_*237insTTT
ENST00000358971.7:c.*1540_*1541insTTT	ENSP00000351857.3:n.*1540_*1541insTTT
ENST00000382103.6:c.*236_*237insTTT	ENSP00000371535.2:n.*236_*237insTTT
NM_016955.3:c.*236_*237insTTT	NP_058651.3:n.*236_*237insTTT
XM_005248168.2:c.*236_*237insTTT	XP_005248225.1:n.*236_*237insTTT
XM_006713965.2:c.*236_*237insTTT	XP_006714028.1:n.*236_*237insTTT
XM_011513846.1:c.*236_*237insTTT	XP_011512148.1:n.*236_*237insTTT
XM_011513847.1:c.*236_*237insTTT	XP_011512149.1:n.*236_*237insTTT
XM_011513848.1:c.*236_*237insTTT	XP_011512150.1:n.*236_*237insTTT
XM_011513846.2:c.*236_*237insTTT	XP_011512148.1:n.*236_*237insTTT
XM_011513847.2:c.*236_*237insTTT	XP_011512149.1:n.*236_*237insTTT
XM_017008277.1:c.*236_*237insTTT	XP_016863766.1:n.*236_*237insTTT
XM_017008278.1:c.*236_*237insTTT	XP_016863767.1:n.*236_*237insTTT
NM_016955.4:c.*236_*237insTTT MANE Select	NP_058651.3:n.*236_*237insTTT