Canonical Allele Identifier: CA2078628279

Gene: SACS

Linked Data

• dbSNP Id: rs1868805580

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337930_23337931insGA , CM000675.2:g.23337930_23337931insGA	GRCh38
NC_000013.10:g.23912069_23912070insGA , CM000675.1:g.23912069_23912070insGA	GRCh37
NC_000013.9:g.22810069_22810070insGA	NCBI36
NG_012342.1:g.100772_100773insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15854_2185+15855insTC	ENSP00000508399.1:n.2185+15854_2185+15855insTC
ENST00000682944.1:c.5972_5973insTC	ENSP00000507173.1:p.Ser1992HisfsTer7
ENST00000683210.1:c.2185+15854_2185+15855insTC	ENSP00000506739.1:n.2185+15854_2185+15855insTC
ENST00000683270.1:c.5936_5937insTC	ENSP00000507624.1:p.Ser1980HisfsTer7
ENST00000683367.1:c.2177-8447_2177-8446insTC	ENSP00000507780.1:n.2177-8447_2177-8446insTC
ENST00000683489.1:c.2291+3654_2291+3655insTC	ENSP00000508403.1:n.2291+3654_2291+3655insTC
ENST00000683680.1:c.2318+3654_2318+3655insTC	ENSP00000507223.1:n.2318+3654_2318+3655insTC
ENST00000684163.1:c.2204-8447_2204-8446insTC	ENSP00000508262.1:n.2204-8447_2204-8446insTC
ENST00000684196.1:n.4543-8447_4543-8446insTC
ENST00000684325.1:c.2185+15854_2185+15855insTC	ENSP00000508121.1:n.2185+15854_2185+15855insTC
ENST00000684385.1:c.2221-8447_2221-8446insTC	ENSP00000507855.1:n.2221-8447_2221-8446insTC
ENST00000684497.1:c.2186-15287_2186-15286insTC	ENSP00000507057.1:n.2186-15287_2186-15286insTC
ENST00000382292.9:c.5945_5946insTC MANE Select	ENSP00000371729.3:p.Ser1983HisfsTer7
ENST00000423156.2:c.2186-8447_2186-8446insTC	ENSP00000390925.2:n.2186-8447_2186-8446insTC
ENST00000455470.6:c.2431+3514_2431+3515insTC	ENSP00000406565.2:n.2431+3514_2431+3515insTC
ENST00000382292.7:c.5945_5946insTC	ENSP00000371729.3:p.Ser1983HisfsTer7
ENST00000382298.7:c.5945_5946insTC	ENSP00000371735.3:p.Ser1983HisfsTer7
ENST00000402364.1:c.3695_3696insTC	ENSP00000385844.1:p.Ser1233HisfsTer7
ENST00000423156.1:c.1058-8447_1058-8446insTC	ENSP00000390925.1:n.1058-8447_1058-8446insTC
ENST00000455470.5:c.2129+3514_2129+3515insTC
NM_001278055.1:c.5504_5505insTC	NP_001264984.1:p.Ser1836HisfsTer7
NM_014363.5:c.5945_5946insTC	NP_055178.3:p.Ser1983HisfsTer7
XM_005266338.1:c.5972_5973insTC	XP_005266395.1:p.Ser1992HisfsTer7
XM_011535038.1:c.5996_5997insTC	XP_011533340.1:p.Ser2000HisfsTer7
XM_011535039.1:c.5963_5964insTC	XP_011533341.1:p.Ser1989HisfsTer7
XM_005266338.2:c.5972_5973insTC	XP_005266395.1:p.Ser1992HisfsTer7
XM_011535039.2:c.5963_5964insTC	XP_011533341.1:p.Ser1989HisfsTer7
XM_017020539.1:c.5936_5937insTC	XP_016876028.1:p.Ser1980HisfsTer7
XM_024449337.1:c.5972_5973insTC	XP_024305105.1:p.Ser1992HisfsTer7
NM_014363.6:c.5945_5946insTC MANE Select	NP_055178.3:p.Ser1983HisfsTer7
NM_001278055.2:c.5504_5505insTC	NP_001264984.1:p.Ser1836HisfsTer7