Canonical Allele Identifier: CA608985238

Gene: SACS

Linked Data

• dbSNP Id: rs1449061016
• gnomAD v2: 13-23907974-CA-C
• gnomAD v4: 13-23333835-CA-C
• MyVariant Identifiers: chr13:g.23907975del (hg19) ; chr13:g.23333836del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333838del , CM000675.2:g.23333838del	GRCh38
NC_000013.10:g.23907977del , CM000675.1:g.23907977del	GRCh37
NC_000013.9:g.22805977del	NCBI36
NG_012342.1:g.104867del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19949del	ENSP00000508399.1:n.2185+19949del
ENST00000682944.1:c.10067del	ENSP00000507173.1:p.Leu3356CysfsTer9
ENST00000683210.1:c.2185+19949del	ENSP00000506739.1:n.2185+19949del
ENST00000683270.1:c.6445+3586del	ENSP00000507624.1:n.6445+3586del
ENST00000683367.1:c.2177-4352del	ENSP00000507780.1:n.2177-4352del
ENST00000683489.1:c.2292-3884del	ENSP00000508403.1:n.2292-3884del
ENST00000683680.1:c.2319-3884del	ENSP00000507223.1:n.2319-3884del
ENST00000684163.1:c.2204-4352del	ENSP00000508262.1:n.2204-4352del
ENST00000684196.1:n.4543-4352del
ENST00000684325.1:c.2186-12162del	ENSP00000508121.1:n.2186-12162del
ENST00000684385.1:c.2221-4352del	ENSP00000507855.1:n.2221-4352del
ENST00000684497.1:c.2186-11192del	ENSP00000507057.1:n.2186-11192del
ENST00000382292.9:c.10040del MANE Select	ENSP00000371729.3:p.Leu3347CysfsTer9
ENST00000423156.2:c.2186-4352del	ENSP00000390925.2:n.2186-4352del
ENST00000455470.6:c.2432-4352del	ENSP00000406565.2:n.2432-4352del
ENST00000382292.7:c.10040del	ENSP00000371729.3:p.Leu3347CysfsTer9
ENST00000382298.7:c.10040del	ENSP00000371735.3:p.Leu3347CysfsTer9
ENST00000402364.1:c.7790del	ENSP00000385844.1:p.Leu2597CysfsTer9
ENST00000423156.1:c.1058-4352del	ENSP00000390925.1:n.1058-4352del
ENST00000455470.5:c.2130-4352del
NM_001278055.1:c.9599del	NP_001264984.1:p.Leu3200CysfsTer9
NM_014363.5:c.10040del	NP_055178.3:p.Leu3347CysfsTer9
XM_005266338.1:c.10067del	XP_005266395.1:p.Leu3356CysfsTer9
XM_011535038.1:c.10091del	XP_011533340.1:p.Leu3364CysfsTer9
XM_011535039.1:c.10058del	XP_011533341.1:p.Leu3353CysfsTer9
XM_005266338.2:c.10067del	XP_005266395.1:p.Leu3356CysfsTer9
XM_011535039.2:c.10058del	XP_011533341.1:p.Leu3353CysfsTer9
XM_017020539.1:c.10031del	XP_016876028.1:p.Leu3344CysfsTer9
XM_024449337.1:c.10067del	XP_024305105.1:p.Leu3356CysfsTer9
NM_014363.6:c.10040del MANE Select	NP_055178.3:p.Leu3347CysfsTer9
NM_001278055.2:c.9599del	NP_001264984.1:p.Leu3200CysfsTer9