Canonical Allele Identifier: CA2580086832

Gene: SACS

Linked Data

• ClinVar Variation Id: 2010554
• ClinVar RCV Id: RCV002851067

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333084_23333085delinsTT , CM000675.2:g.23333084_23333085delinsTT	GRCh38
NC_000013.10:g.23907223_23907224delinsTT , CM000675.1:g.23907223_23907224delinsTT	GRCh37
NC_000013.9:g.22805223_22805224delinsTT	NCBI36
NG_012342.1:g.105618_105619delinsAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+20700_2185+20701delinsAA	ENSP00000508399.1:n.2185+20700_2185+20701...
ENST00000682944.1:c.10818_10819delinsAA	ENSP00000507173.1:p.Gln3607Lys
ENST00000683210.1:c.2185+20700_2185+20701delinsAA	ENSP00000506739.1:n.2185+20700_2185+20701...
ENST00000683270.1:c.6446-3601_6446-3600delinsAA	ENSP00000507624.1:n.6446-3601_6446-3600de...
ENST00000683367.1:c.2177-3601_2177-3600delinsAA	ENSP00000507780.1:n.2177-3601_2177-3600de...
ENST00000683489.1:c.2292-3133_2292-3132delinsAA	ENSP00000508403.1:n.2292-3133_2292-3132de...
ENST00000683680.1:c.2319-3133_2319-3132delinsAA	ENSP00000507223.1:n.2319-3133_2319-3132de...
ENST00000684163.1:c.2204-3601_2204-3600delinsAA	ENSP00000508262.1:n.2204-3601_2204-3600de...
ENST00000684196.1:n.4543-3601_4543-3600delinsAA
ENST00000684325.1:c.2186-11411_2186-11410delinsAA	ENSP00000508121.1:n.2186-11411_2186-11410...
ENST00000684385.1:c.2221-3601_2221-3600delinsAA	ENSP00000507855.1:n.2221-3601_2221-3600de...
ENST00000684497.1:c.2186-10441_2186-10440delinsAA	ENSP00000507057.1:n.2186-10441_2186-10440...
ENST00000382292.9:c.10791_10792delinsAA MANE Select	ENSP00000371729.3:p.Gln3598Lys
ENST00000423156.2:c.2186-3601_2186-3600delinsAA	ENSP00000390925.2:n.2186-3601_2186-3600de...
ENST00000455470.6:c.2432-3601_2432-3600delinsAA	ENSP00000406565.2:n.2432-3601_2432-3600de...
ENST00000382292.7:c.10791_10792delinsAA	ENSP00000371729.3:p.Gln3598Lys
ENST00000382298.7:c.10791_10792delinsAA	ENSP00000371735.3:p.Gln3598Lys
ENST00000402364.1:c.8541_8542delinsAA	ENSP00000385844.1:p.Gln2848Lys
ENST00000423156.1:c.1058-3601_1058-3600delinsAA	ENSP00000390925.1:n.1058-3601_1058-3600de...
ENST00000455470.5:c.2130-3601_2130-3600delinsAA
NM_001278055.1:c.10350_10351delinsAA	NP_001264984.1:p.Gln3451Lys
NM_014363.5:c.10791_10792delinsAA	NP_055178.3:p.Gln3598Lys
XM_005266338.1:c.10818_10819delinsAA	XP_005266395.1:p.Gln3607Lys
XM_011535038.1:c.10842_10843delinsAA	XP_011533340.1:p.Gln3615Lys
XM_011535039.1:c.10809_10810delinsAA	XP_011533341.1:p.Gln3604Lys
XM_005266338.2:c.10818_10819delinsAA	XP_005266395.1:p.Gln3607Lys
XM_011535039.2:c.10809_10810delinsAA	XP_011533341.1:p.Gln3604Lys
XM_017020539.1:c.10782_10783delinsAA	XP_016876028.1:p.Gln3595Lys
XM_024449337.1:c.10818_10819delinsAA	XP_024305105.1:p.Gln3607Lys
NM_014363.6:c.10791_10792delinsAA MANE Select	NP_055178.3:p.Gln3598Lys
NM_001278055.2:c.10350_10351delinsAA	NP_001264984.1:p.Gln3451Lys