Canonical Allele Identifier: CA2622328956

Gene: SACS

Linked Data

• gnomAD v4: 13-23335049-C-CTGATAA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335052_23335057dup , CM000675.2:g.23335052_23335057dup	GRCh38
NC_000013.10:g.23909191_23909196dup , CM000675.1:g.23909191_23909196dup	GRCh37
NC_000013.9:g.22807191_22807196dup	NCBI36
NG_012342.1:g.103648_103653dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18730_2185+18735dup	ENSP00000508399.1:n.2185+18730_2185+18735dup
ENST00000682944.1:c.8848_8853dup	ENSP00000507173.1:p.Ser2951_Val2952insLeuSer
ENST00000683210.1:c.2185+18730_2185+18735dup	ENSP00000506739.1:n.2185+18730_2185+18735dup
ENST00000683270.1:c.6445+2367_6445+2372dup	ENSP00000507624.1:n.6445+2367_6445+2372dup
ENST00000683367.1:c.2177-5571_2177-5566dup	ENSP00000507780.1:n.2177-5571_2177-5566dup
ENST00000683489.1:c.2292-5103_2292-5098dup	ENSP00000508403.1:n.2292-5103_2292-5098dup
ENST00000683680.1:c.2319-5103_2319-5098dup	ENSP00000507223.1:n.2319-5103_2319-5098dup
ENST00000684163.1:c.2204-5571_2204-5566dup	ENSP00000508262.1:n.2204-5571_2204-5566dup
ENST00000684196.1:n.4543-5571_4543-5566dup
ENST00000684325.1:c.2186-13381_2186-13376dup	ENSP00000508121.1:n.2186-13381_2186-13376dup
ENST00000684385.1:c.2221-5571_2221-5566dup	ENSP00000507855.1:n.2221-5571_2221-5566dup
ENST00000684497.1:c.2186-12411_2186-12406dup	ENSP00000507057.1:n.2186-12411_2186-12406dup
ENST00000382292.9:c.8821_8826dup MANE Select	ENSP00000371729.3:p.Ser2942_Val2943insLeuSer
ENST00000423156.2:c.2186-5571_2186-5566dup	ENSP00000390925.2:n.2186-5571_2186-5566dup
ENST00000455470.6:c.2432-5571_2432-5566dup	ENSP00000406565.2:n.2432-5571_2432-5566dup
ENST00000382292.7:c.8821_8826dup	ENSP00000371729.3:p.Ser2942_Val2943insLeuSer
ENST00000382298.7:c.8821_8826dup	ENSP00000371735.3:p.Ser2942_Val2943insLeuSer
ENST00000402364.1:c.6571_6576dup	ENSP00000385844.1:p.Ser2192_Val2193insLeuSer
ENST00000423156.1:c.1058-5571_1058-5566dup	ENSP00000390925.1:n.1058-5571_1058-5566dup
ENST00000455470.5:c.2130-5571_2130-5566dup
NM_001278055.1:c.8380_8385dup	NP_001264984.1:p.Ser2795_Val2796insLeuSer
NM_014363.5:c.8821_8826dup	NP_055178.3:p.Ser2942_Val2943insLeuSer
XM_005266338.1:c.8848_8853dup	XP_005266395.1:p.Ser2951_Val2952insLeuSer
XM_011535038.1:c.8872_8877dup	XP_011533340.1:p.Ser2959_Val2960insLeuSer
XM_011535039.1:c.8839_8844dup	XP_011533341.1:p.Ser2948_Val2949insLeuSer
XM_005266338.2:c.8848_8853dup	XP_005266395.1:p.Ser2951_Val2952insLeuSer
XM_011535039.2:c.8839_8844dup	XP_011533341.1:p.Ser2948_Val2949insLeuSer
XM_017020539.1:c.8812_8817dup	XP_016876028.1:p.Ser2939_Val2940insLeuSer
XM_024449337.1:c.8848_8853dup	XP_024305105.1:p.Ser2951_Val2952insLeuSer
NM_014363.6:c.8821_8826dup MANE Select	NP_055178.3:p.Ser2942_Val2943insLeuSer
NM_001278055.2:c.8380_8385dup	NP_001264984.1:p.Ser2795_Val2796insLeuSer