Canonical Allele Identifier: CA2575369454

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333994_23333996del , CM000675.2:g.23333994_23333996del	GRCh38
NC_000013.10:g.23908133_23908135del , CM000675.1:g.23908133_23908135del	GRCh37
NC_000013.9:g.22806133_22806135del	NCBI36
NG_012342.1:g.104709_104711del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19791_2185+19793del	ENSP00000508399.1:n.2185+19791_2185+19793del
ENST00000682944.1:c.9909_9911del	ENSP00000507173.1:p.Val3304del
ENST00000683210.1:c.2185+19791_2185+19793del	ENSP00000506739.1:n.2185+19791_2185+19793del
ENST00000683270.1:c.6445+3428_6445+3430del	ENSP00000507624.1:n.6445+3428_6445+3430del
ENST00000683367.1:c.2177-4510_2177-4508del	ENSP00000507780.1:n.2177-4510_2177-4508del
ENST00000683489.1:c.2292-4042_2292-4040del	ENSP00000508403.1:n.2292-4042_2292-4040del
ENST00000683680.1:c.2319-4042_2319-4040del	ENSP00000507223.1:n.2319-4042_2319-4040del
ENST00000684163.1:c.2204-4510_2204-4508del	ENSP00000508262.1:n.2204-4510_2204-4508del
ENST00000684196.1:n.4543-4510_4543-4508del
ENST00000684325.1:c.2186-12320_2186-12318del	ENSP00000508121.1:n.2186-12320_2186-12318del
ENST00000684385.1:c.2221-4510_2221-4508del	ENSP00000507855.1:n.2221-4510_2221-4508del
ENST00000684497.1:c.2186-11350_2186-11348del	ENSP00000507057.1:n.2186-11350_2186-11348del
ENST00000382292.9:c.9882_9884del MANE Select	ENSP00000371729.3:p.Val3295del
ENST00000423156.2:c.2186-4510_2186-4508del	ENSP00000390925.2:n.2186-4510_2186-4508del
ENST00000455470.6:c.2432-4510_2432-4508del	ENSP00000406565.2:n.2432-4510_2432-4508del
ENST00000382292.7:c.9882_9884del	ENSP00000371729.3:p.Val3295del
ENST00000382298.7:c.9882_9884del	ENSP00000371735.3:p.Val3295del
ENST00000402364.1:c.7632_7634del	ENSP00000385844.1:p.Val2545del
ENST00000423156.1:c.1058-4510_1058-4508del	ENSP00000390925.1:n.1058-4510_1058-4508del
ENST00000455470.5:c.2130-4510_2130-4508del
NM_001278055.1:c.9441_9443del	NP_001264984.1:p.Val3148del
NM_014363.5:c.9882_9884del	NP_055178.3:p.Val3295del
XM_005266338.1:c.9909_9911del	XP_005266395.1:p.Val3304del
XM_011535038.1:c.9933_9935del	XP_011533340.1:p.Val3312del
XM_011535039.1:c.9900_9902del	XP_011533341.1:p.Val3301del
XM_005266338.2:c.9909_9911del	XP_005266395.1:p.Val3304del
XM_011535039.2:c.9900_9902del	XP_011533341.1:p.Val3301del
XM_017020539.1:c.9873_9875del	XP_016876028.1:p.Val3292del
XM_024449337.1:c.9909_9911del	XP_024305105.1:p.Val3304del
NM_014363.6:c.9882_9884del MANE Select	NP_055178.3:p.Val3295del
NM_001278055.2:c.9441_9443del	NP_001264984.1:p.Val3148del