Canonical Allele Identifier: CA2078621730

Gene: SACS

Linked Data

• ClinVar Variation Id: 2444089
• ClinVar RCV Id: RCV003152887 ; RCV003750943
• dbSNP Id: rs1868408180
• gnomAD v4: 13-23334655-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334658_23334659del , CM000675.2:g.23334658_23334659del	GRCh38
NC_000013.10:g.23908797_23908798del , CM000675.1:g.23908797_23908798del	GRCh37
NC_000013.9:g.22806797_22806798del	NCBI36
NG_012342.1:g.104046_104047del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19128_2185+19129del	ENSP00000508399.1:n.2185+19128_2185+19129del
ENST00000682944.1:c.9246_9247del	ENSP00000507173.1:p.Cys3082Ter
ENST00000683210.1:c.2185+19128_2185+19129del	ENSP00000506739.1:n.2185+19128_2185+19129del
ENST00000683270.1:c.6445+2765_6445+2766del	ENSP00000507624.1:n.6445+2765_6445+2766del
ENST00000683367.1:c.2177-5173_2177-5172del	ENSP00000507780.1:n.2177-5173_2177-5172del
ENST00000683489.1:c.2292-4705_2292-4704del	ENSP00000508403.1:n.2292-4705_2292-4704del
ENST00000683680.1:c.2319-4705_2319-4704del	ENSP00000507223.1:n.2319-4705_2319-4704del
ENST00000684163.1:c.2204-5173_2204-5172del	ENSP00000508262.1:n.2204-5173_2204-5172del
ENST00000684196.1:n.4543-5173_4543-5172del
ENST00000684325.1:c.2186-12983_2186-12982del	ENSP00000508121.1:n.2186-12983_2186-12982del
ENST00000684385.1:c.2221-5173_2221-5172del	ENSP00000507855.1:n.2221-5173_2221-5172del
ENST00000684497.1:c.2186-12013_2186-12012del	ENSP00000507057.1:n.2186-12013_2186-12012del
ENST00000382292.9:c.9219_9220del MANE Select	ENSP00000371729.3:p.Cys3073Ter
ENST00000423156.2:c.2186-5173_2186-5172del	ENSP00000390925.2:n.2186-5173_2186-5172del
ENST00000455470.6:c.2432-5173_2432-5172del	ENSP00000406565.2:n.2432-5173_2432-5172del
ENST00000382292.7:c.9219_9220del	ENSP00000371729.3:p.Cys3073Ter
ENST00000382298.7:c.9219_9220del	ENSP00000371735.3:p.Cys3073Ter
ENST00000402364.1:c.6969_6970del	ENSP00000385844.1:p.Cys2323Ter
ENST00000423156.1:c.1058-5173_1058-5172del	ENSP00000390925.1:n.1058-5173_1058-5172del
ENST00000455470.5:c.2130-5173_2130-5172del
NM_001278055.1:c.8778_8779del	NP_001264984.1:p.Cys2926Ter
NM_014363.5:c.9219_9220del	NP_055178.3:p.Cys3073Ter
XM_005266338.1:c.9246_9247del	XP_005266395.1:p.Cys3082Ter
XM_011535038.1:c.9270_9271del	XP_011533340.1:p.Cys3090Ter
XM_011535039.1:c.9237_9238del	XP_011533341.1:p.Cys3079Ter
XM_005266338.2:c.9246_9247del	XP_005266395.1:p.Cys3082Ter
XM_011535039.2:c.9237_9238del	XP_011533341.1:p.Cys3079Ter
XM_017020539.1:c.9210_9211del	XP_016876028.1:p.Cys3070Ter
XM_024449337.1:c.9246_9247del	XP_024305105.1:p.Cys3082Ter
NM_014363.6:c.9219_9220del MANE Select	NP_055178.3:p.Cys3073Ter
NM_001278055.2:c.8778_8779del	NP_001264984.1:p.Cys2926Ter