Canonical Allele Identifier: CA2622328920

Gene: SACS

Linked Data

• ClinVar Variation Id: 2678567
• ClinVar RCV Id: RCV003466377
• gnomAD v4: 13-23334211-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334215_23334216del , CM000675.2:g.23334215_23334216del	GRCh38
NC_000013.10:g.23908354_23908355del , CM000675.1:g.23908354_23908355del	GRCh37
NC_000013.9:g.22806354_22806355del	NCBI36
NG_012342.1:g.104490_104491del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19572_2185+19573del	ENSP00000508399.1:n.2185+19572_2185+19573del
ENST00000682944.1:c.9690_9691del	ENSP00000507173.1:p.Leu3231AlafsTer5
ENST00000683210.1:c.2185+19572_2185+19573del	ENSP00000506739.1:n.2185+19572_2185+19573del
ENST00000683270.1:c.6445+3209_6445+3210del	ENSP00000507624.1:n.6445+3209_6445+3210del
ENST00000683367.1:c.2177-4729_2177-4728del	ENSP00000507780.1:n.2177-4729_2177-4728del
ENST00000683489.1:c.2292-4261_2292-4260del	ENSP00000508403.1:n.2292-4261_2292-4260del
ENST00000683680.1:c.2319-4261_2319-4260del	ENSP00000507223.1:n.2319-4261_2319-4260del
ENST00000684163.1:c.2204-4729_2204-4728del	ENSP00000508262.1:n.2204-4729_2204-4728del
ENST00000684196.1:n.4543-4729_4543-4728del
ENST00000684325.1:c.2186-12539_2186-12538del	ENSP00000508121.1:n.2186-12539_2186-12538del
ENST00000684385.1:c.2221-4729_2221-4728del	ENSP00000507855.1:n.2221-4729_2221-4728del
ENST00000684497.1:c.2186-11569_2186-11568del	ENSP00000507057.1:n.2186-11569_2186-11568del
ENST00000382292.9:c.9663_9664del MANE Select	ENSP00000371729.3:p.Leu3222AlafsTer5
ENST00000423156.2:c.2186-4729_2186-4728del	ENSP00000390925.2:n.2186-4729_2186-4728del
ENST00000455470.6:c.2432-4729_2432-4728del	ENSP00000406565.2:n.2432-4729_2432-4728del
ENST00000382292.7:c.9663_9664del	ENSP00000371729.3:p.Leu3222AlafsTer5
ENST00000382298.7:c.9663_9664del	ENSP00000371735.3:p.Leu3222AlafsTer5
ENST00000402364.1:c.7413_7414del	ENSP00000385844.1:p.Leu2472AlafsTer5
ENST00000423156.1:c.1058-4729_1058-4728del	ENSP00000390925.1:n.1058-4729_1058-4728del
ENST00000455470.5:c.2130-4729_2130-4728del
NM_001278055.1:c.9222_9223del	NP_001264984.1:p.Leu3075AlafsTer5
NM_014363.5:c.9663_9664del	NP_055178.3:p.Leu3222AlafsTer5
XM_005266338.1:c.9690_9691del	XP_005266395.1:p.Leu3231AlafsTer5
XM_011535038.1:c.9714_9715del	XP_011533340.1:p.Leu3239AlafsTer5
XM_011535039.1:c.9681_9682del	XP_011533341.1:p.Leu3228AlafsTer5
XM_005266338.2:c.9690_9691del	XP_005266395.1:p.Leu3231AlafsTer5
XM_011535039.2:c.9681_9682del	XP_011533341.1:p.Leu3228AlafsTer5
XM_017020539.1:c.9654_9655del	XP_016876028.1:p.Leu3219AlafsTer5
XM_024449337.1:c.9690_9691del	XP_024305105.1:p.Leu3231AlafsTer5
NM_014363.6:c.9663_9664del MANE Select	NP_055178.3:p.Leu3222AlafsTer5
NM_001278055.2:c.9222_9223del	NP_001264984.1:p.Leu3075AlafsTer5