Canonical Allele Identifier: CA550289625

Gene: SEPSECS

Linked Data

• dbSNP Id: rs1323537084
• gnomAD v2: 4-25122443-ACT-A
• gnomAD v3: 4-25120821-ACT-A
• gnomAD v4: 4-25120821-ACT-A
• MyVariant Identifiers: chr4:g.25122444_25122445del (hg19) ; chr4:g.25120822_25120823del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25120825_25120826del , CM000666.2:g.25120825_25120826del	GRCh38
NC_000004.11:g.25122447_25122448del , CM000666.1:g.25122447_25122448del	GRCh37
NC_000004.10:g.24731545_24731546del	NCBI36
NG_028222.1:g.44760_44761del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.*3108_*3109del MANE Select	ENSP00000371535.2:n.*3108_*3109del
ENST00000680581.1:c.*3488_*3489del	ENSP00000506483.1:n.*3488_*3489del
ENST00000680824.1:n.5830_5831del
ENST00000681071.1:n.4906_4907del
ENST00000681341.1:n.5661_5662del
ENST00000681374.1:n.3970_3971del
ENST00000681948.1:c.*3108_*3109del	ENSP00000505991.1:n.*3108_*3109del
ENST00000382103.6:c.*3108_*3109del	ENSP00000371535.2:n.*3108_*3109del
NM_016955.3:c.*3108_*3109del	NP_058651.3:n.*3108_*3109del
XM_005248168.2:c.*3108_*3109del	XP_005248225.1:n.*3108_*3109del
XM_006713965.2:c.*3108_*3109del	XP_006714028.1:n.*3108_*3109del
XM_011513846.1:c.*3108_*3109del	XP_011512148.1:n.*3108_*3109del
XM_011513847.1:c.*3108_*3109del	XP_011512149.1:n.*3108_*3109del
XM_011513848.1:c.*3108_*3109del	XP_011512150.1:n.*3108_*3109del
XM_011513846.2:c.*3108_*3109del	XP_011512148.1:n.*3108_*3109del
XM_011513847.2:c.*3108_*3109del	XP_011512149.1:n.*3108_*3109del
XM_017008277.1:c.*3108_*3109del	XP_016863766.1:n.*3108_*3109del
XM_017008278.1:c.*3108_*3109del	XP_016863767.1:n.*3108_*3109del
NM_016955.4:c.*3108_*3109del MANE Select	NP_058651.3:n.*3108_*3109del