Canonical Allele Identifier: CA1060322972

Gene: SEPSECS

Linked Data

• dbSNP Id: rs2109021331
• gnomAD v3: 4-25144323-GCT-G
• gnomAD v4: 4-25144323-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144325_25144326del , CM000666.2:g.25144325_25144326del	GRCh38
NC_000004.11:g.25145947_25145948del , CM000666.1:g.25145947_25145948del	GRCh37
NC_000004.10:g.24755045_24755046del	NCBI36
NG_028222.1:g.21258_21259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.1026+449_1026+450del MANE Select	ENSP00000371535.2:n.1026+449_1026+450del
ENST00000680581.1:c.1026+449_1026+450del	ENSP00000506483.1:n.1026+449_1026+450del
ENST00000680824.1:n.2242+449_2242+450del
ENST00000681071.1:n.1318+449_1318+450del
ENST00000681341.1:n.2167+449_2167+450del
ENST00000681948.1:c.1281+449_1281+450del	ENSP00000505991.1:n.1281+449_1281+450del
ENST00000358971.7:c.*824+449_*824+450del	ENSP00000351857.3:n.*824+449_*824+450del
ENST00000382103.6:c.1026+449_1026+450del	ENSP00000371535.2:n.1026+449_1026+450del
ENST00000503150.1:c.308+449_308+450del
ENST00000505513.1:n.326+449_326+450del
ENST00000514585.5:c.*727+449_*727+450del	ENSP00000421880.1:n.*727+449_*727+450del
NM_016955.3:c.1026+449_1026+450del	NP_058651.3:n.1026+449_1026+450del
XM_005248168.2:c.789+449_789+450del	XP_005248225.1:n.789+449_789+450del
XM_006713965.2:c.846+449_846+450del	XP_006714028.1:n.846+449_846+450del
XM_011513846.1:c.1023+449_1023+450del	XP_011512148.1:n.1023+449_1023+450del
XM_011513847.1:c.993+449_993+450del	XP_011512149.1:n.993+449_993+450del
XM_011513848.1:c.846+449_846+450del	XP_011512150.1:n.846+449_846+450del
XM_011513846.2:c.1023+449_1023+450del	XP_011512148.1:n.1023+449_1023+450del
XM_011513847.2:c.993+449_993+450del	XP_011512149.1:n.993+449_993+450del
XM_017008277.1:c.1281+449_1281+450del	XP_016863766.1:n.1281+449_1281+450del
XM_017008278.1:c.603+449_603+450del	XP_016863767.1:n.603+449_603+450del
NM_016955.4:c.1026+449_1026+450del MANE Select	NP_058651.3:n.1026+449_1026+450del