Canonical Allele Identifier: CA550289620

Gene: SEPSECS

Linked Data

• dbSNP Id: rs1448288005
• gnomAD v2: 4-25122416-GT-G
• gnomAD v3: 4-25120794-GT-G
• gnomAD v4: 4-25120794-GT-G
• MyVariant Identifiers: chr4:g.25122417del (hg19) ; chr4:g.25120795del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25120796del , CM000666.2:g.25120796del	GRCh38
NC_000004.11:g.25122418del , CM000666.1:g.25122418del	GRCh37
NC_000004.10:g.24731516del	NCBI36
NG_028222.1:g.44788del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.*3136del MANE Select	ENSP00000371535.2:n.*3136del
ENST00000680581.1:c.*3516del	ENSP00000506483.1:n.*3516del
ENST00000680824.1:n.5858del
ENST00000681071.1:n.4934del
ENST00000681341.1:n.5689del
ENST00000681374.1:n.3998del
ENST00000681948.1:c.*3136del	ENSP00000505991.1:n.*3136del
ENST00000382103.6:c.*3136del	ENSP00000371535.2:n.*3136del
NM_016955.3:c.*3136del	NP_058651.3:n.*3136del
XM_005248168.2:c.*3136del	XP_005248225.1:n.*3136del
XM_006713965.2:c.*3136del	XP_006714028.1:n.*3136del
XM_011513846.1:c.*3136del	XP_011512148.1:n.*3136del
XM_011513847.1:c.*3136del	XP_011512149.1:n.*3136del
XM_011513848.1:c.*3136del	XP_011512150.1:n.*3136del
XM_011513846.2:c.*3136del	XP_011512148.1:n.*3136del
XM_011513847.2:c.*3136del	XP_011512149.1:n.*3136del
XM_017008277.1:c.*3136del	XP_016863766.1:n.*3136del
XM_017008278.1:c.*3136del	XP_016863767.1:n.*3136del
NM_016955.4:c.*3136del MANE Select	NP_058651.3:n.*3136del