Canonical Allele Identifier: CA2575369447

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332757_23332759del , CM000675.2:g.23332757_23332759del	GRCh38
NC_000013.10:g.23906896_23906898del , CM000675.1:g.23906896_23906898del	GRCh37
NC_000013.9:g.22804896_22804898del	NCBI36
NG_012342.1:g.105947_105949del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-20641_2186-20639del	ENSP00000508399.1:n.2186-20641_2186-20639del
ENST00000682944.1:c.11147_11149del	ENSP00000507173.1:p.Leu3716del
ENST00000683210.1:c.2185+21029_2185+21031del	ENSP00000506739.1:n.2185+21029_2185+21031del
ENST00000683270.1:c.6446-3272_6446-3270del	ENSP00000507624.1:n.6446-3272_6446-3270del
ENST00000683367.1:c.2177-3272_2177-3270del	ENSP00000507780.1:n.2177-3272_2177-3270del
ENST00000683489.1:c.2292-2804_2292-2802del	ENSP00000508403.1:n.2292-2804_2292-2802del
ENST00000683680.1:c.2319-2804_2319-2802del	ENSP00000507223.1:n.2319-2804_2319-2802del
ENST00000684163.1:c.2204-3272_2204-3270del	ENSP00000508262.1:n.2204-3272_2204-3270del
ENST00000684196.1:n.4543-3272_4543-3270del
ENST00000684325.1:c.2186-11082_2186-11080del	ENSP00000508121.1:n.2186-11082_2186-11080del
ENST00000684385.1:c.2221-3272_2221-3270del	ENSP00000507855.1:n.2221-3272_2221-3270del
ENST00000684497.1:c.2186-10112_2186-10110del	ENSP00000507057.1:n.2186-10112_2186-10110del
ENST00000382292.9:c.11120_11122del MANE Select	ENSP00000371729.3:p.Leu3707del
ENST00000423156.2:c.2186-3272_2186-3270del	ENSP00000390925.2:n.2186-3272_2186-3270del
ENST00000455470.6:c.2432-3272_2432-3270del	ENSP00000406565.2:n.2432-3272_2432-3270del
ENST00000382292.7:c.11120_11122del	ENSP00000371729.3:p.Leu3707del
ENST00000382298.7:c.11120_11122del	ENSP00000371735.3:p.Leu3707del
ENST00000402364.1:c.8870_8872del	ENSP00000385844.1:p.Leu2957del
ENST00000423156.1:c.1058-3272_1058-3270del	ENSP00000390925.1:n.1058-3272_1058-3270del
ENST00000455470.5:c.2130-3272_2130-3270del
NM_001278055.1:c.10679_10681del	NP_001264984.1:p.Leu3560del
NM_014363.5:c.11120_11122del	NP_055178.3:p.Leu3707del
XM_005266338.1:c.11147_11149del	XP_005266395.1:p.Leu3716del
XM_011535038.1:c.11171_11173del	XP_011533340.1:p.Leu3724del
XM_011535039.1:c.11138_11140del	XP_011533341.1:p.Leu3713del
XM_005266338.2:c.11147_11149del	XP_005266395.1:p.Leu3716del
XM_011535039.2:c.11138_11140del	XP_011533341.1:p.Leu3713del
XM_017020539.1:c.11111_11113del	XP_016876028.1:p.Leu3704del
XM_024449337.1:c.11147_11149del	XP_024305105.1:p.Leu3716del
NM_014363.6:c.11120_11122del MANE Select	NP_055178.3:p.Leu3707del
NM_001278055.2:c.10679_10681del	NP_001264984.1:p.Leu3560del