Canonical Allele Identifier: CA658823519

Gene: SACS

Linked Data

• ClinVar Variation Id: 558550
• ClinVar RCV Id: RCV000674839 ; RCV001381028
• dbSNP Id: rs1555249425
• MyVariant Identifiers: chr13:g.23331040_23331041del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331042_23331043del , CM000675.2:g.23331042_23331043del	GRCh38
NC_000013.10:g.23905181_23905182del , CM000675.1:g.23905181_23905182del	GRCh37
NC_000013.9:g.22803181_22803182del	NCBI36
NG_012342.1:g.107662_107663del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18926_2186-18925del	ENSP00000508399.1:n.2186-18926_2186-18925del
ENST00000682944.1:c.12862_12863del	ENSP00000507173.1:p.Leu4288PhefsTer4
ENST00000683210.1:c.2185+22744_2185+22745del	ENSP00000506739.1:n.2185+22744_2185+22745del
ENST00000683270.1:c.6446-1557_6446-1556del	ENSP00000507624.1:n.6446-1557_6446-1556del
ENST00000683367.1:c.2177-1557_2177-1556del	ENSP00000507780.1:n.2177-1557_2177-1556del
ENST00000683489.1:c.2292-1089_2292-1088del	ENSP00000508403.1:n.2292-1089_2292-1088del
ENST00000683680.1:c.2319-1089_2319-1088del	ENSP00000507223.1:n.2319-1089_2319-1088del
ENST00000684163.1:c.2204-1557_2204-1556del	ENSP00000508262.1:n.2204-1557_2204-1556del
ENST00000684196.1:n.4543-1557_4543-1556del
ENST00000684325.1:c.2186-9367_2186-9366del	ENSP00000508121.1:n.2186-9367_2186-9366del
ENST00000684385.1:c.2221-1557_2221-1556del	ENSP00000507855.1:n.2221-1557_2221-1556del
ENST00000684497.1:c.2186-8397_2186-8396del	ENSP00000507057.1:n.2186-8397_2186-8396del
ENST00000382292.9:c.12835_12836del MANE Select	ENSP00000371729.3:p.Leu4279PhefsTer4
ENST00000423156.2:c.2186-1557_2186-1556del	ENSP00000390925.2:n.2186-1557_2186-1556del
ENST00000455470.6:c.2432-1557_2432-1556del	ENSP00000406565.2:n.2432-1557_2432-1556del
ENST00000382292.7:c.12835_12836del	ENSP00000371729.3:p.Leu4279PhefsTer4
ENST00000382298.7:c.12835_12836del	ENSP00000371735.3:p.Leu4279PhefsTer4
ENST00000402364.1:c.10585_10586del	ENSP00000385844.1:p.Leu3529PhefsTer4
ENST00000423156.1:c.1058-1557_1058-1556del	ENSP00000390925.1:n.1058-1557_1058-1556del
ENST00000455470.5:c.2130-1557_2130-1556del
NM_001278055.1:c.12394_12395del	NP_001264984.1:p.Leu4132PhefsTer4
NM_014363.5:c.12835_12836del	NP_055178.3:p.Leu4279PhefsTer4
XM_005266338.1:c.12862_12863del	XP_005266395.1:p.Leu4288PhefsTer4
XM_011535038.1:c.12886_12887del	XP_011533340.1:p.Leu4296PhefsTer4
XM_011535039.1:c.12853_12854del	XP_011533341.1:p.Leu4285PhefsTer4
XM_005266338.2:c.12862_12863del	XP_005266395.1:p.Leu4288PhefsTer4
XM_011535039.2:c.12853_12854del	XP_011533341.1:p.Leu4285PhefsTer4
XM_017020539.1:c.12826_12827del	XP_016876028.1:p.Leu4276PhefsTer4
XM_024449337.1:c.12862_12863del	XP_024305105.1:p.Leu4288PhefsTer4
NM_014363.6:c.12835_12836del MANE Select	NP_055178.3:p.Leu4279PhefsTer4
NM_001278055.2:c.12394_12395del	NP_001264984.1:p.Leu4132PhefsTer4