Canonical Allele Identifier: CA2078629628

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338569_23338572delinsATGG , CM000675.2:g.23338569_23338572delinsATGG	GRCh38
NC_000013.10:g.23912708_23912711delinsATGG , CM000675.1:g.23912708_23912711delinsATGG	GRCh37
NC_000013.9:g.22810708_22810711delinsATGG	NCBI36
NG_012342.1:g.100131_100134delinsCCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15213_2185+15216delinsCCAT	ENSP00000508399.1:n.2185+15213_2185+15216delinsCCAT
ENST00000682944.1:c.5331_5334delinsCCAT	ENSP00000507173.1:p.His1777=
ENST00000683210.1:c.2185+15213_2185+15216delinsCCAT	ENSP00000506739.1:n.2185+15213_2185+15216delinsCCAT
ENST00000683270.1:c.5295_5298delinsCCAT	ENSP00000507624.1:p.His1765=
ENST00000683367.1:c.2177-9088_2177-9085delinsCCAT	ENSP00000507780.1:n.2177-9088_2177-9085delinsCCAT
ENST00000683489.1:c.2291+3013_2291+3016delinsCCAT	ENSP00000508403.1:n.2291+3013_2291+3016delinsCCAT
ENST00000683680.1:c.2318+3013_2318+3016delinsCCAT	ENSP00000507223.1:n.2318+3013_2318+3016delinsCCAT
ENST00000684163.1:c.2203+8239_2203+8242delinsCCAT	ENSP00000508262.1:n.2203+8239_2203+8242delinsCCAT
ENST00000684196.1:n.4543-9088_4543-9085delinsCCAT
ENST00000684325.1:c.2185+15213_2185+15216delinsCCAT	ENSP00000508121.1:n.2185+15213_2185+15216delinsCCAT
ENST00000684385.1:c.2220+8239_2220+8242delinsCCAT	ENSP00000507855.1:n.2220+8239_2220+8242delinsCCAT
ENST00000684497.1:c.2185+15213_2185+15216delinsCCAT	ENSP00000507057.1:n.2185+15213_2185+15216delinsCCAT
ENST00000382292.9:c.5304_5307delinsCCAT MANE Select	ENSP00000371729.3:p.His1768=
ENST00000423156.2:c.2186-9088_2186-9085delinsCCAT	ENSP00000390925.2:n.2186-9088_2186-9085delinsCCAT
ENST00000455470.6:c.2431+2873_2431+2876delinsCCAT	ENSP00000406565.2:n.2431+2873_2431+2876delinsCCAT
ENST00000382292.7:c.5304_5307delinsCCAT	ENSP00000371729.3:p.His1768=
ENST00000382298.7:c.5304_5307delinsCCAT	ENSP00000371735.3:p.His1768=
ENST00000402364.1:c.3054_3057delinsCCAT	ENSP00000385844.1:p.His1018=
ENST00000423156.1:c.1058-9088_1058-9085delinsCCAT	ENSP00000390925.1:n.1058-9088_1058-9085delinsCCAT
ENST00000455470.5:c.2129+2873_2129+2876delinsCCAT
NM_001278055.1:c.4863_4866delinsCCAT	NP_001264984.1:p.His1621=
NM_014363.5:c.5304_5307delinsCCAT	NP_055178.3:p.His1768=
XM_005266338.1:c.5331_5334delinsCCAT	XP_005266395.1:p.His1777=
XM_011535038.1:c.5355_5358delinsCCAT	XP_011533340.1:p.His1785=
XM_011535039.1:c.5322_5325delinsCCAT	XP_011533341.1:p.His1774=
XM_005266338.2:c.5331_5334delinsCCAT	XP_005266395.1:p.His1777=
XM_011535039.2:c.5322_5325delinsCCAT	XP_011533341.1:p.His1774=
XM_017020539.1:c.5295_5298delinsCCAT	XP_016876028.1:p.His1765=
XM_024449337.1:c.5331_5334delinsCCAT	XP_024305105.1:p.His1777=
NM_014363.6:c.5304_5307delinsCCAT MANE Select	NP_055178.3:p.His1768=
NM_001278055.2:c.4863_4866delinsCCAT	NP_001264984.1:p.His1621=