Canonical Allele Identifier: CA793319876

Gene: SEPSECS

Linked Data

• dbSNP Id: rs34160695
• gnomAD v3: 4-25144326-CAAA-C
• gnomAD v4: 4-25144326-CAAA-C
• MyVariant Identifiers: chr4:g.25145949_25145951del (hg19) ; chr4:g.25144327_25144329del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144344_25144346del , CM000666.2:g.25144344_25144346del	GRCh38
NC_000004.11:g.25145966_25145968del , CM000666.1:g.25145966_25145968del	GRCh37
NC_000004.10:g.24755064_24755066del	NCBI36
NG_028222.1:g.21254_21256del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.1026+445_1026+447del MANE Select	ENSP00000371535.2:n.1026+445_1026+447del
ENST00000680581.1:c.1026+445_1026+447del	ENSP00000506483.1:n.1026+445_1026+447del
ENST00000680824.1:n.2242+445_2242+447del
ENST00000681071.1:n.1318+445_1318+447del
ENST00000681341.1:n.2167+445_2167+447del
ENST00000681948.1:c.1281+445_1281+447del	ENSP00000505991.1:n.1281+445_1281+447del
ENST00000358971.7:c.*824+445_*824+447del	ENSP00000351857.3:n.*824+445_*824+447del
ENST00000382103.6:c.1026+445_1026+447del	ENSP00000371535.2:n.1026+445_1026+447del
ENST00000503150.1:c.308+445_308+447del
ENST00000505513.1:n.326+445_326+447del
ENST00000514585.5:c.*727+445_*727+447del	ENSP00000421880.1:n.*727+445_*727+447del
NM_016955.3:c.1026+445_1026+447del	NP_058651.3:n.1026+445_1026+447del
XM_005248168.2:c.789+445_789+447del	XP_005248225.1:n.789+445_789+447del
XM_006713965.2:c.846+445_846+447del	XP_006714028.1:n.846+445_846+447del
XM_011513846.1:c.1023+445_1023+447del	XP_011512148.1:n.1023+445_1023+447del
XM_011513847.1:c.993+445_993+447del	XP_011512149.1:n.993+445_993+447del
XM_011513848.1:c.846+445_846+447del	XP_011512150.1:n.846+445_846+447del
XM_011513846.2:c.1023+445_1023+447del	XP_011512148.1:n.1023+445_1023+447del
XM_011513847.2:c.993+445_993+447del	XP_011512149.1:n.993+445_993+447del
XM_017008277.1:c.1281+445_1281+447del	XP_016863766.1:n.1281+445_1281+447del
XM_017008278.1:c.603+445_603+447del	XP_016863767.1:n.603+445_603+447del
NM_016955.4:c.1026+445_1026+447del MANE Select	NP_058651.3:n.1026+445_1026+447del