Canonical Allele Identifier: CA608985237

Gene: SACS

Linked Data

• dbSNP Id: rs1429260231
• gnomAD v2: 13-23907920-TAG-T
• gnomAD v4: 13-23333781-TAG-T
• MyVariant Identifiers: chr13:g.23907921_23907922del (hg19) ; chr13:g.23333782_23333783del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333784_23333785del , CM000675.2:g.23333784_23333785del	GRCh38
NC_000013.10:g.23907923_23907924del , CM000675.1:g.23907923_23907924del	GRCh37
NC_000013.9:g.22805923_22805924del	NCBI36
NG_012342.1:g.104920_104921del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+20002_2185+20003del	ENSP00000508399.1:n.2185+20002_2185+20003...
ENST00000682944.1:c.10120_10121del	ENSP00000507173.1:p.Leu3374ThrfsTer10
ENST00000683210.1:c.2185+20002_2185+20003del	ENSP00000506739.1:n.2185+20002_2185+20003...
ENST00000683270.1:c.6445+3639_6445+3640del	ENSP00000507624.1:n.6445+3639_6445+3640de...
ENST00000683367.1:c.2177-4299_2177-4298del	ENSP00000507780.1:n.2177-4299_2177-4298de...
ENST00000683489.1:c.2292-3831_2292-3830del	ENSP00000508403.1:n.2292-3831_2292-3830de...
ENST00000683680.1:c.2319-3831_2319-3830del	ENSP00000507223.1:n.2319-3831_2319-3830de...
ENST00000684163.1:c.2204-4299_2204-4298del	ENSP00000508262.1:n.2204-4299_2204-4298de...
ENST00000684196.1:n.4543-4299_4543-4298del
ENST00000684325.1:c.2186-12109_2186-12108del	ENSP00000508121.1:n.2186-12109_2186-12108...
ENST00000684385.1:c.2221-4299_2221-4298del	ENSP00000507855.1:n.2221-4299_2221-4298de...
ENST00000684497.1:c.2186-11139_2186-11138del	ENSP00000507057.1:n.2186-11139_2186-11138...
ENST00000382292.9:c.10093_10094del MANE Select	ENSP00000371729.3:p.Leu3365ThrfsTer10
ENST00000423156.2:c.2186-4299_2186-4298del	ENSP00000390925.2:n.2186-4299_2186-4298de...
ENST00000455470.6:c.2432-4299_2432-4298del	ENSP00000406565.2:n.2432-4299_2432-4298de...
ENST00000382292.7:c.10093_10094del	ENSP00000371729.3:p.Leu3365ThrfsTer10
ENST00000382298.7:c.10093_10094del	ENSP00000371735.3:p.Leu3365ThrfsTer10
ENST00000402364.1:c.7843_7844del	ENSP00000385844.1:p.Leu2615ThrfsTer10
ENST00000423156.1:c.1058-4299_1058-4298del	ENSP00000390925.1:n.1058-4299_1058-4298de...
ENST00000455470.5:c.2130-4299_2130-4298del
NM_001278055.1:c.9652_9653del	NP_001264984.1:p.Leu3218ThrfsTer10
NM_014363.5:c.10093_10094del	NP_055178.3:p.Leu3365ThrfsTer10
XM_005266338.1:c.10120_10121del	XP_005266395.1:p.Leu3374ThrfsTer10
XM_011535038.1:c.10144_10145del	XP_011533340.1:p.Leu3382ThrfsTer10
XM_011535039.1:c.10111_10112del	XP_011533341.1:p.Leu3371ThrfsTer10
XM_005266338.2:c.10120_10121del	XP_005266395.1:p.Leu3374ThrfsTer10
XM_011535039.2:c.10111_10112del	XP_011533341.1:p.Leu3371ThrfsTer10
XM_017020539.1:c.10084_10085del	XP_016876028.1:p.Leu3362ThrfsTer10
XM_024449337.1:c.10120_10121del	XP_024305105.1:p.Leu3374ThrfsTer10
NM_014363.6:c.10093_10094del MANE Select	NP_055178.3:p.Leu3365ThrfsTer10
NM_001278055.2:c.9652_9653del	NP_001264984.1:p.Leu3218ThrfsTer10