Canonical Allele Identifier: CA2622328914

Gene: SACS

Linked Data

• gnomAD v4: 13-23334078-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334080del , CM000675.2:g.23334080del	GRCh38
NC_000013.10:g.23908219del , CM000675.1:g.23908219del	GRCh37
NC_000013.9:g.22806219del	NCBI36
NG_012342.1:g.104624del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+19706del	ENSP00000508399.1:n.2185+19706del
ENST00000682944.1:c.9824del	ENSP00000507173.1:p.Pro3275GlnfsTer10
ENST00000683210.1:c.2185+19706del	ENSP00000506739.1:n.2185+19706del
ENST00000683270.1:c.6445+3343del	ENSP00000507624.1:n.6445+3343del
ENST00000683367.1:c.2177-4595del	ENSP00000507780.1:n.2177-4595del
ENST00000683489.1:c.2292-4127del	ENSP00000508403.1:n.2292-4127del
ENST00000683680.1:c.2319-4127del	ENSP00000507223.1:n.2319-4127del
ENST00000684163.1:c.2204-4595del	ENSP00000508262.1:n.2204-4595del
ENST00000684196.1:n.4543-4595del
ENST00000684325.1:c.2186-12405del	ENSP00000508121.1:n.2186-12405del
ENST00000684385.1:c.2221-4595del	ENSP00000507855.1:n.2221-4595del
ENST00000684497.1:c.2186-11435del	ENSP00000507057.1:n.2186-11435del
ENST00000382292.9:c.9797del MANE Select	ENSP00000371729.3:p.Pro3266GlnfsTer10
ENST00000423156.2:c.2186-4595del	ENSP00000390925.2:n.2186-4595del
ENST00000455470.6:c.2432-4595del	ENSP00000406565.2:n.2432-4595del
ENST00000382292.7:c.9797del	ENSP00000371729.3:p.Pro3266GlnfsTer10
ENST00000382298.7:c.9797del	ENSP00000371735.3:p.Pro3266GlnfsTer10
ENST00000402364.1:c.7547del	ENSP00000385844.1:p.Pro2516GlnfsTer10
ENST00000423156.1:c.1058-4595del	ENSP00000390925.1:n.1058-4595del
ENST00000455470.5:c.2130-4595del
NM_001278055.1:c.9356del	NP_001264984.1:p.Pro3119GlnfsTer10
NM_014363.5:c.9797del	NP_055178.3:p.Pro3266GlnfsTer10
XM_005266338.1:c.9824del	XP_005266395.1:p.Pro3275GlnfsTer10
XM_011535038.1:c.9848del	XP_011533340.1:p.Pro3283GlnfsTer10
XM_011535039.1:c.9815del	XP_011533341.1:p.Pro3272GlnfsTer10
XM_005266338.2:c.9824del	XP_005266395.1:p.Pro3275GlnfsTer10
XM_011535039.2:c.9815del	XP_011533341.1:p.Pro3272GlnfsTer10
XM_017020539.1:c.9788del	XP_016876028.1:p.Pro3263GlnfsTer10
XM_024449337.1:c.9824del	XP_024305105.1:p.Pro3275GlnfsTer10
NM_014363.6:c.9797del MANE Select	NP_055178.3:p.Pro3266GlnfsTer10
NM_001278055.2:c.9356del	NP_001264984.1:p.Pro3119GlnfsTer10