Canonical Allele Identifier: CA2798487822

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331040_23331041insACCAAACACACCCAACACA , CM000675.2:g.23331040_23331041insACCAAACACACCCAACACA	GRCh38
NC_000013.10:g.23905179_23905180insACCAAACACACCCAACACA , CM000675.1:g.23905179_23905180insACCAAACACACCCAACACA	GRCh37
NC_000013.9:g.22803179_22803180insACCAAACACACCCAACACA	NCBI36
NG_012342.1:g.107663_107664insGTGTTGGGTGTGTTTGGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18925_2186-18924insGTGTTGGGTGTGTTTGGTT	ENSP00000508399.1:n.2186-18925_2186-18924insGTGTTGGGTGTGTTTGG...
ENST00000682944.1:c.12863_12864insGTGTTGGGTGTGTTTGGTT	ENSP00000507173.1:p.Phe4289CysfsTer10
ENST00000683210.1:c.2185+22745_2185+22746insGTGTTGGGTGTGTTTGGTT	ENSP00000506739.1:n.2185+22745_2185+22746insGTGTTGGGTGTGTTTGG...
ENST00000683270.1:c.6446-1556_6446-1555insGTGTTGGGTGTGTTTGGTT	ENSP00000507624.1:n.6446-1556_6446-1555insGTGTTGGGTGTGTTTGGTT...
ENST00000683367.1:c.2177-1556_2177-1555insGTGTTGGGTGTGTTTGGTT	ENSP00000507780.1:n.2177-1556_2177-1555insGTGTTGGGTGTGTTTGGTT...
ENST00000683489.1:c.2292-1088_2292-1087insGTGTTGGGTGTGTTTGGTT	ENSP00000508403.1:n.2292-1088_2292-1087insGTGTTGGGTGTGTTTGGTT...
ENST00000683680.1:c.2319-1088_2319-1087insGTGTTGGGTGTGTTTGGTT	ENSP00000507223.1:n.2319-1088_2319-1087insGTGTTGGGTGTGTTTGGTT...
ENST00000684163.1:c.2204-1556_2204-1555insGTGTTGGGTGTGTTTGGTT	ENSP00000508262.1:n.2204-1556_2204-1555insGTGTTGGGTGTGTTTGGTT...
ENST00000684196.1:n.4543-1556_4543-1555insGTGTTGGGTGTGTTTGGTT
ENST00000684325.1:c.2186-9366_2186-9365insGTGTTGGGTGTGTTTGGTT	ENSP00000508121.1:n.2186-9366_2186-9365insGTGTTGGGTGTGTTTGGTT...
ENST00000684385.1:c.2221-1556_2221-1555insGTGTTGGGTGTGTTTGGTT	ENSP00000507855.1:n.2221-1556_2221-1555insGTGTTGGGTGTGTTTGGTT...
ENST00000684497.1:c.2186-8396_2186-8395insGTGTTGGGTGTGTTTGGTT	ENSP00000507057.1:n.2186-8396_2186-8395insGTGTTGGGTGTGTTTGGTT...
ENST00000382292.9:c.12836_12837insGTGTTGGGTGTGTTTGGTT MANE Select	ENSP00000371729.3:p.Phe4280CysfsTer10
ENST00000423156.2:c.2186-1556_2186-1555insGTGTTGGGTGTGTTTGGTT	ENSP00000390925.2:n.2186-1556_2186-1555insGTGTTGGGTGTGTTTGGTT...
ENST00000455470.6:c.2432-1556_2432-1555insGTGTTGGGTGTGTTTGGTT	ENSP00000406565.2:n.2432-1556_2432-1555insGTGTTGGGTGTGTTTGGTT...
ENST00000382292.7:c.12836_12837insGTGTTGGGTGTGTTTGGTT	ENSP00000371729.3:p.Phe4280CysfsTer10
ENST00000382298.7:c.12836_12837insGTGTTGGGTGTGTTTGGTT	ENSP00000371735.3:p.Phe4280CysfsTer10
ENST00000402364.1:c.10586_10587insGTGTTGGGTGTGTTTGGTT	ENSP00000385844.1:p.Phe3530CysfsTer10
ENST00000423156.1:c.1058-1556_1058-1555insGTGTTGGGTGTGTTTGGTT	ENSP00000390925.1:n.1058-1556_1058-1555insGTGTTGGGTGTGTTTGGTT...
ENST00000455470.5:c.2130-1556_2130-1555insGTGTTGGGTGTGTTTGGTT
NM_001278055.1:c.12395_12396insGTGTTGGGTGTGTTTGGTT	NP_001264984.1:p.Phe4133CysfsTer10
NM_014363.5:c.12836_12837insGTGTTGGGTGTGTTTGGTT	NP_055178.3:p.Phe4280CysfsTer10
XM_005266338.1:c.12863_12864insGTGTTGGGTGTGTTTGGTT	XP_005266395.1:p.Phe4289CysfsTer10
XM_011535038.1:c.12887_12888insGTGTTGGGTGTGTTTGGTT	XP_011533340.1:p.Phe4297CysfsTer10
XM_011535039.1:c.12854_12855insGTGTTGGGTGTGTTTGGTT	XP_011533341.1:p.Phe4286CysfsTer10
XM_005266338.2:c.12863_12864insGTGTTGGGTGTGTTTGGTT	XP_005266395.1:p.Phe4289CysfsTer10
XM_011535039.2:c.12854_12855insGTGTTGGGTGTGTTTGGTT	XP_011533341.1:p.Phe4286CysfsTer10
XM_017020539.1:c.12827_12828insGTGTTGGGTGTGTTTGGTT	XP_016876028.1:p.Phe4277CysfsTer10
XM_024449337.1:c.12863_12864insGTGTTGGGTGTGTTTGGTT	XP_024305105.1:p.Phe4289CysfsTer10
NM_014363.6:c.12836_12837insGTGTTGGGTGTGTTTGGTT MANE Select	NP_055178.3:p.Phe4280CysfsTer10
NM_001278055.2:c.12395_12396insGTGTTGGGTGTGTTTGGTT	NP_001264984.1:p.Phe4133CysfsTer10