Canonical Allele Identifier: CA550288251

Gene: SEPSECS

Linked Data

• dbSNP Id: rs1185618417
• gnomAD v2: 4-25145951-A-AG
• gnomAD v3: 4-25144329-A-AG
• gnomAD v4: 4-25144329-A-AG
• MyVariant Identifiers: chr4:g.25145951_25145952insG (hg19) ; chr4:g.25144329_25144330insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144329_25144330insG , CM000666.2:g.25144329_25144330insG	GRCh38
NC_000004.11:g.25145951_25145952insG , CM000666.1:g.25145951_25145952insG	GRCh37
NC_000004.10:g.24755049_24755050insG	NCBI36
NG_028222.1:g.21253_21254insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.1026+444_1026+445insC MANE Select	ENSP00000371535.2:n.1026+444_1026+445insC
ENST00000680581.1:c.1026+444_1026+445insC	ENSP00000506483.1:n.1026+444_1026+445insC
ENST00000680824.1:n.2242+444_2242+445insC
ENST00000681071.1:n.1318+444_1318+445insC
ENST00000681341.1:n.2167+444_2167+445insC
ENST00000681948.1:c.1281+444_1281+445insC	ENSP00000505991.1:n.1281+444_1281+445insC
ENST00000358971.7:c.*824+444_*824+445insC	ENSP00000351857.3:n.*824+444_*824+445insC
ENST00000382103.6:c.1026+444_1026+445insC	ENSP00000371535.2:n.1026+444_1026+445insC
ENST00000503150.1:c.308+444_308+445insC
ENST00000505513.1:n.326+444_326+445insC
ENST00000514585.5:c.*727+444_*727+445insC	ENSP00000421880.1:n.*727+444_*727+445insC
NM_016955.3:c.1026+444_1026+445insC	NP_058651.3:n.1026+444_1026+445insC
XM_005248168.2:c.789+444_789+445insC	XP_005248225.1:n.789+444_789+445insC
XM_006713965.2:c.846+444_846+445insC	XP_006714028.1:n.846+444_846+445insC
XM_011513846.1:c.1023+444_1023+445insC	XP_011512148.1:n.1023+444_1023+445insC
XM_011513847.1:c.993+444_993+445insC	XP_011512149.1:n.993+444_993+445insC
XM_011513848.1:c.846+444_846+445insC	XP_011512150.1:n.846+444_846+445insC
XM_011513846.2:c.1023+444_1023+445insC	XP_011512148.1:n.1023+444_1023+445insC
XM_011513847.2:c.993+444_993+445insC	XP_011512149.1:n.993+444_993+445insC
XM_017008277.1:c.1281+444_1281+445insC	XP_016863766.1:n.1281+444_1281+445insC
XM_017008278.1:c.603+444_603+445insC	XP_016863767.1:n.603+444_603+445insC
NM_016955.4:c.1026+444_1026+445insC MANE Select	NP_058651.3:n.1026+444_1026+445insC