Canonical Allele Identifier: CA912980186

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23907509_23907514del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333371_23333376del , CM000675.2:g.23333371_23333376del	GRCh38
NC_000013.10:g.23907510_23907515del , CM000675.1:g.23907510_23907515del	GRCh37
NC_000013.9:g.22805510_22805515del	NCBI36
NG_012342.1:g.105329_105334del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20411_2185+20416del	ENSP00000508399.1:n.2185+20411_2185+20416del
ENST00000682944.1:c.10529_10534del	ENSP00000507173.1:p.Lys3510_Asn3511del
ENST00000683210.1:c.2185+20411_2185+20416del	ENSP00000506739.1:n.2185+20411_2185+20416del
ENST00000683270.1:c.6446-3890_6446-3885del	ENSP00000507624.1:n.6446-3890_6446-3885del
ENST00000683367.1:c.2177-3890_2177-3885del	ENSP00000507780.1:n.2177-3890_2177-3885del
ENST00000683489.1:c.2292-3422_2292-3417del	ENSP00000508403.1:n.2292-3422_2292-3417del
ENST00000683680.1:c.2319-3422_2319-3417del	ENSP00000507223.1:n.2319-3422_2319-3417del
ENST00000684163.1:c.2204-3890_2204-3885del	ENSP00000508262.1:n.2204-3890_2204-3885del
ENST00000684196.1:n.4543-3890_4543-3885del
ENST00000684325.1:c.2186-11700_2186-11695del	ENSP00000508121.1:n.2186-11700_2186-11695del
ENST00000684385.1:c.2221-3890_2221-3885del	ENSP00000507855.1:n.2221-3890_2221-3885del
ENST00000684497.1:c.2186-10730_2186-10725del	ENSP00000507057.1:n.2186-10730_2186-10725del
ENST00000382292.9:c.10502_10507del MANE Select	ENSP00000371729.3:p.Lys3501_Asn3502del
ENST00000423156.2:c.2186-3890_2186-3885del	ENSP00000390925.2:n.2186-3890_2186-3885del
ENST00000455470.6:c.2432-3890_2432-3885del	ENSP00000406565.2:n.2432-3890_2432-3885del
ENST00000382292.7:c.10502_10507del	ENSP00000371729.3:p.Lys3501_Asn3502del
ENST00000382298.7:c.10502_10507del	ENSP00000371735.3:p.Lys3501_Asn3502del
ENST00000402364.1:c.8252_8257del	ENSP00000385844.1:p.Lys2751_Asn2752del
ENST00000423156.1:c.1058-3890_1058-3885del	ENSP00000390925.1:n.1058-3890_1058-3885del
ENST00000455470.5:c.2130-3890_2130-3885del
NM_001278055.1:c.10061_10066del	NP_001264984.1:p.Lys3354_Asn3355del
NM_014363.5:c.10502_10507del	NP_055178.3:p.Lys3501_Asn3502del
XM_005266338.1:c.10529_10534del	XP_005266395.1:p.Lys3510_Asn3511del
XM_011535038.1:c.10553_10558del	XP_011533340.1:p.Lys3518_Asn3519del
XM_011535039.1:c.10520_10525del	XP_011533341.1:p.Lys3507_Asn3508del
XM_005266338.2:c.10529_10534del	XP_005266395.1:p.Lys3510_Asn3511del
XM_011535039.2:c.10520_10525del	XP_011533341.1:p.Lys3507_Asn3508del
XM_017020539.1:c.10493_10498del	XP_016876028.1:p.Lys3498_Asn3499del
XM_024449337.1:c.10529_10534del	XP_024305105.1:p.Lys3510_Asn3511del
NM_014363.6:c.10502_10507del MANE Select	NP_055178.3:p.Lys3501_Asn3502del
NM_001278055.2:c.10061_10066del	NP_001264984.1:p.Lys3354_Asn3355del