Canonical Allele Identifier: CA550288239

Gene: SEPSECS

Linked Data

• dbSNP Id: rs1328413861
• gnomAD v2: 4-25145867-CAGA-C
• gnomAD v3: 4-25144245-CAGA-C
• gnomAD v4: 4-25144245-CAGA-C
• MyVariant Identifiers: chr4:g.25145868_25145870del (hg19) ; chr4:g.25144246_25144248del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144250_25144252del , CM000666.2:g.25144250_25144252del	GRCh38
NC_000004.11:g.25145872_25145874del , CM000666.1:g.25145872_25145874del	GRCh37
NC_000004.10:g.24754970_24754972del	NCBI36
NG_028222.1:g.21335_21337del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.1026+526_1026+528del MANE Select	ENSP00000371535.2:n.1026+526_1026+528del
ENST00000680581.1:c.1026+526_1026+528del	ENSP00000506483.1:n.1026+526_1026+528del
ENST00000680824.1:n.2242+526_2242+528del
ENST00000681071.1:n.1318+526_1318+528del
ENST00000681341.1:n.2167+526_2167+528del
ENST00000681948.1:c.1281+526_1281+528del	ENSP00000505991.1:n.1281+526_1281+528del
ENST00000358971.7:c.*824+526_*824+528del	ENSP00000351857.3:n.*824+526_*824+528del
ENST00000382103.6:c.1026+526_1026+528del	ENSP00000371535.2:n.1026+526_1026+528del
ENST00000503150.1:c.308+526_308+528del
ENST00000505513.1:n.326+526_326+528del
ENST00000514585.5:c.*727+526_*727+528del	ENSP00000421880.1:n.*727+526_*727+528del
NM_016955.3:c.1026+526_1026+528del	NP_058651.3:n.1026+526_1026+528del
XM_005248168.2:c.789+526_789+528del	XP_005248225.1:n.789+526_789+528del
XM_006713965.2:c.846+526_846+528del	XP_006714028.1:n.846+526_846+528del
XM_011513846.1:c.1023+526_1023+528del	XP_011512148.1:n.1023+526_1023+528del
XM_011513847.1:c.993+526_993+528del	XP_011512149.1:n.993+526_993+528del
XM_011513848.1:c.846+526_846+528del	XP_011512150.1:n.846+526_846+528del
XM_011513846.2:c.1023+526_1023+528del	XP_011512148.1:n.1023+526_1023+528del
XM_011513847.2:c.993+526_993+528del	XP_011512149.1:n.993+526_993+528del
XM_017008277.1:c.1281+526_1281+528del	XP_016863766.1:n.1281+526_1281+528del
XM_017008278.1:c.603+526_603+528del	XP_016863767.1:n.603+526_603+528del
NM_016955.4:c.1026+526_1026+528del MANE Select	NP_058651.3:n.1026+526_1026+528del