Canonical Allele Identifier: CA696607918

Gene: SACS

Linked Data

• ClinVar Variation Id: 1971539
• ClinVar RCV Id: RCV002740818
• dbSNP Id: rs1463970507
• gnomAD v3: 13-23334591-AG-A
• gnomAD v4: 13-23334591-AG-A
• MyVariant Identifiers: chr13:g.23908731del (hg19) ; chr13:g.23334592del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334595del , CM000675.2:g.23334595del	GRCh38
NC_000013.10:g.23908734del , CM000675.1:g.23908734del	GRCh37
NC_000013.9:g.22806734del	NCBI36
NG_012342.1:g.104111del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+19193del	ENSP00000508399.1:n.2185+19193del
ENST00000682944.1:c.9311del	ENSP00000507173.1:p.Pro3104LeufsTer8
ENST00000683210.1:c.2185+19193del	ENSP00000506739.1:n.2185+19193del
ENST00000683270.1:c.6445+2830del	ENSP00000507624.1:n.6445+2830del
ENST00000683367.1:c.2177-5108del	ENSP00000507780.1:n.2177-5108del
ENST00000683489.1:c.2292-4640del	ENSP00000508403.1:n.2292-4640del
ENST00000683680.1:c.2319-4640del	ENSP00000507223.1:n.2319-4640del
ENST00000684163.1:c.2204-5108del	ENSP00000508262.1:n.2204-5108del
ENST00000684196.1:n.4543-5108del
ENST00000684325.1:c.2186-12918del	ENSP00000508121.1:n.2186-12918del
ENST00000684385.1:c.2221-5108del	ENSP00000507855.1:n.2221-5108del
ENST00000684497.1:c.2186-11948del	ENSP00000507057.1:n.2186-11948del
ENST00000382292.9:c.9284del MANE Select	ENSP00000371729.3:p.Pro3095LeufsTer8
ENST00000423156.2:c.2186-5108del	ENSP00000390925.2:n.2186-5108del
ENST00000455470.6:c.2432-5108del	ENSP00000406565.2:n.2432-5108del
ENST00000382292.7:c.9284del	ENSP00000371729.3:p.Pro3095LeufsTer8
ENST00000382298.7:c.9284del	ENSP00000371735.3:p.Pro3095LeufsTer8
ENST00000402364.1:c.7034del	ENSP00000385844.1:p.Pro2345LeufsTer8
ENST00000423156.1:c.1058-5108del	ENSP00000390925.1:n.1058-5108del
ENST00000455470.5:c.2130-5108del
NM_001278055.1:c.8843del	NP_001264984.1:p.Pro2948LeufsTer8
NM_014363.5:c.9284del	NP_055178.3:p.Pro3095LeufsTer8
XM_005266338.1:c.9311del	XP_005266395.1:p.Pro3104LeufsTer8
XM_011535038.1:c.9335del	XP_011533340.1:p.Pro3112LeufsTer8
XM_011535039.1:c.9302del	XP_011533341.1:p.Pro3101LeufsTer8
XM_005266338.2:c.9311del	XP_005266395.1:p.Pro3104LeufsTer8
XM_011535039.2:c.9302del	XP_011533341.1:p.Pro3101LeufsTer8
XM_017020539.1:c.9275del	XP_016876028.1:p.Pro3092LeufsTer8
XM_024449337.1:c.9311del	XP_024305105.1:p.Pro3104LeufsTer8
NM_014363.6:c.9284del MANE Select	NP_055178.3:p.Pro3095LeufsTer8
NM_001278055.2:c.8843del	NP_001264984.1:p.Pro2948LeufsTer8