Canonical Allele Identifier: CA2575369387

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331388_23331399del , CM000675.2:g.23331388_23331399del	GRCh38
NC_000013.10:g.23905527_23905538del , CM000675.1:g.23905527_23905538del	GRCh37
NC_000013.9:g.22803527_22803538del	NCBI36
NG_012342.1:g.107309_107320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-19279_2186-19268del	ENSP00000508399.1:n.2186-19279_2186-19268del
ENST00000682944.1:c.12509_12520del	ENSP00000507173.1:p.Pro4170_Ile4173del
ENST00000683210.1:c.2185+22391_2185+22402del	ENSP00000506739.1:n.2185+22391_2185+22402del
ENST00000683270.1:c.6446-1910_6446-1899del	ENSP00000507624.1:n.6446-1910_6446-1899del
ENST00000683367.1:c.2177-1910_2177-1899del	ENSP00000507780.1:n.2177-1910_2177-1899del
ENST00000683489.1:c.2292-1442_2292-1431del	ENSP00000508403.1:n.2292-1442_2292-1431del
ENST00000683680.1:c.2319-1442_2319-1431del	ENSP00000507223.1:n.2319-1442_2319-1431del
ENST00000684163.1:c.2204-1910_2204-1899del	ENSP00000508262.1:n.2204-1910_2204-1899del
ENST00000684196.1:n.4543-1910_4543-1899del
ENST00000684325.1:c.2186-9720_2186-9709del	ENSP00000508121.1:n.2186-9720_2186-9709del
ENST00000684385.1:c.2221-1910_2221-1899del	ENSP00000507855.1:n.2221-1910_2221-1899del
ENST00000684497.1:c.2186-8750_2186-8739del	ENSP00000507057.1:n.2186-8750_2186-8739del
ENST00000382292.9:c.12482_12493del MANE Select	ENSP00000371729.3:p.Pro4161_Ile4164del
ENST00000423156.2:c.2186-1910_2186-1899del	ENSP00000390925.2:n.2186-1910_2186-1899del
ENST00000455470.6:c.2432-1910_2432-1899del	ENSP00000406565.2:n.2432-1910_2432-1899del
ENST00000382292.7:c.12482_12493del	ENSP00000371729.3:p.Pro4161_Ile4164del
ENST00000382298.7:c.12482_12493del	ENSP00000371735.3:p.Pro4161_Ile4164del
ENST00000402364.1:c.10232_10243del	ENSP00000385844.1:p.Pro3411_Ile3414del
ENST00000423156.1:c.1058-1910_1058-1899del	ENSP00000390925.1:n.1058-1910_1058-1899del
ENST00000455470.5:c.2130-1910_2130-1899del
NM_001278055.1:c.12041_12052del	NP_001264984.1:p.Pro4014_Ile4017del
NM_014363.5:c.12482_12493del	NP_055178.3:p.Pro4161_Ile4164del
XM_005266338.1:c.12509_12520del	XP_005266395.1:p.Pro4170_Ile4173del
XM_011535038.1:c.12533_12544del	XP_011533340.1:p.Pro4178_Ile4181del
XM_011535039.1:c.12500_12511del	XP_011533341.1:p.Pro4167_Ile4170del
XM_005266338.2:c.12509_12520del	XP_005266395.1:p.Pro4170_Ile4173del
XM_011535039.2:c.12500_12511del	XP_011533341.1:p.Pro4167_Ile4170del
XM_017020539.1:c.12473_12484del	XP_016876028.1:p.Pro4158_Ile4161del
XM_024449337.1:c.12509_12520del	XP_024305105.1:p.Pro4170_Ile4173del
NM_014363.6:c.12482_12493del MANE Select	NP_055178.3:p.Pro4161_Ile4164del
NM_001278055.2:c.12041_12052del	NP_001264984.1:p.Pro4014_Ile4017del