Canonical Allele Identifier: CA10605992

Gene: SACS

Linked Data

• ClinVar Variation Id: 288176
• ClinVar RCV Id: RCV000303594 ; RCV001782778
• dbSNP Id: rs886043821
• MyVariant Identifiers: chr13:g.23907553_23907554delinsTT (hg19) ; chr13:g.23333414_23333415delinsTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333414_23333415delinsTT , CM000675.2:g.23333414_23333415delinsTT	GRCh38
NC_000013.10:g.23907553_23907554delinsTT , CM000675.1:g.23907553_23907554delinsTT	GRCh37
NC_000013.9:g.22805553_22805554delinsTT	NCBI36
NG_012342.1:g.105288_105289delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20370_2185+20371delinsAA	ENSP00000508399.1:n.2185+20370_2185+20371delinsAA
ENST00000682944.1:c.10488_10489delinsAA	ENSP00000507173.1:p.Asn3496_Leu3497delinsLysIle
ENST00000683210.1:c.2185+20370_2185+20371delinsAA	ENSP00000506739.1:n.2185+20370_2185+20371delinsAA
ENST00000683270.1:c.6446-3931_6446-3930delinsAA	ENSP00000507624.1:n.6446-3931_6446-3930delinsAA
ENST00000683367.1:c.2177-3931_2177-3930delinsAA	ENSP00000507780.1:n.2177-3931_2177-3930delinsAA
ENST00000683489.1:c.2292-3463_2292-3462delinsAA	ENSP00000508403.1:n.2292-3463_2292-3462delinsAA
ENST00000683680.1:c.2319-3463_2319-3462delinsAA	ENSP00000507223.1:n.2319-3463_2319-3462delinsAA
ENST00000684163.1:c.2204-3931_2204-3930delinsAA	ENSP00000508262.1:n.2204-3931_2204-3930delinsAA
ENST00000684196.1:n.4543-3931_4543-3930delinsAA
ENST00000684325.1:c.2186-11741_2186-11740delinsAA	ENSP00000508121.1:n.2186-11741_2186-11740delinsAA
ENST00000684385.1:c.2221-3931_2221-3930delinsAA	ENSP00000507855.1:n.2221-3931_2221-3930delinsAA
ENST00000684497.1:c.2186-10771_2186-10770delinsAA	ENSP00000507057.1:n.2186-10771_2186-10770delinsAA
ENST00000382292.9:c.10461_10462delinsAA MANE Select	ENSP00000371729.3:p.Asn3487_Leu3488delinsLysIle
ENST00000423156.2:c.2186-3931_2186-3930delinsAA	ENSP00000390925.2:n.2186-3931_2186-3930delinsAA
ENST00000455470.6:c.2432-3931_2432-3930delinsAA	ENSP00000406565.2:n.2432-3931_2432-3930delinsAA
ENST00000382292.7:c.10461_10462delinsAA	ENSP00000371729.3:p.Asn3487_Leu3488delinsLysIle
ENST00000382298.7:c.10461_10462delinsAA	ENSP00000371735.3:p.Asn3487_Leu3488delinsLysIle
ENST00000402364.1:c.8211_8212delinsAA	ENSP00000385844.1:p.Asn2737_Leu2738delinsLysIle
ENST00000423156.1:c.1058-3931_1058-3930delinsAA	ENSP00000390925.1:n.1058-3931_1058-3930delinsAA
ENST00000455470.5:c.2130-3931_2130-3930delinsAA
NM_001278055.1:c.10020_10021delinsAA	NP_001264984.1:p.Asn3340_Leu3341delinsLysIle
NM_014363.5:c.10461_10462delinsAA	NP_055178.3:p.Asn3487_Leu3488delinsLysIle
XM_005266338.1:c.10488_10489delinsAA	XP_005266395.1:p.Asn3496_Leu3497delinsLysIle
XM_011535038.1:c.10512_10513delinsAA	XP_011533340.1:p.Asn3504_Leu3505delinsLysIle
XM_011535039.1:c.10479_10480delinsAA	XP_011533341.1:p.Asn3493_Leu3494delinsLysIle
XM_005266338.2:c.10488_10489delinsAA	XP_005266395.1:p.Asn3496_Leu3497delinsLysIle
XM_011535039.2:c.10479_10480delinsAA	XP_011533341.1:p.Asn3493_Leu3494delinsLysIle
XM_017020539.1:c.10452_10453delinsAA	XP_016876028.1:p.Asn3484_Leu3485delinsLysIle
XM_024449337.1:c.10488_10489delinsAA	XP_024305105.1:p.Asn3496_Leu3497delinsLysIle
NM_014363.6:c.10461_10462delinsAA MANE Select	NP_055178.3:p.Asn3487_Leu3488delinsLysIle
NM_001278055.2:c.10020_10021delinsAA	NP_001264984.1:p.Asn3340_Leu3341delinsLysIle