Canonical Allele Identifier: CA16041623
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 371374
ClinVar RCV Id: RCV000412481
dbSNP Id: rs1057517222
MyVariant Identifiers: chr13:g.23910901dupA (hg19) chr13:g.23910900_23910901insA (hg19) chr13:g.23336762dupA (hg38) chr13:g.23336761_23336762insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336764dup , CM000675.2:g.23336764dup GRCh38
NC_000013.10:g.23910903dup , CM000675.1:g.23910903dup GRCh37
NC_000013.9:g.22808903dup NCBI36
NG_012342.1:g.101941dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+17023dup ENSP00000508399.1:n.2185+17023dup
ENST00000682944.1:c.7141dup ENSP00000507173.1:p.Tyr2381LeufsTer5
ENST00000683210.1:c.2185+17023dup ENSP00000506739.1:n.2185+17023dup
ENST00000683270.1:c.6445+660dup ENSP00000507624.1:n.6445+660dup
ENST00000683367.1:c.2177-7278dup ENSP00000507780.1:n.2177-7278dup
ENST00000683489.1:c.2291+4823dup ENSP00000508403.1:n.2291+4823dup
ENST00000683680.1:c.2318+4823dup ENSP00000507223.1:n.2318+4823dup
ENST00000684163.1:c.2204-7278dup ENSP00000508262.1:n.2204-7278dup
ENST00000684196.1:n.4543-7278dup
ENST00000684325.1:c.2186-15088dup ENSP00000508121.1:n.2186-15088dup
ENST00000684385.1:c.2221-7278dup ENSP00000507855.1:n.2221-7278dup
ENST00000684497.1:c.2186-14118dup ENSP00000507057.1:n.2186-14118dup
ENST00000382292.9:c.7114dup MANE Select ENSP00000371729.3:p.Tyr2372LeufsTer5
ENST00000423156.2:c.2186-7278dup ENSP00000390925.2:n.2186-7278dup
ENST00000455470.6:c.2431+4683dup ENSP00000406565.2:n.2431+4683dup
ENST00000382292.7:c.7114dup ENSP00000371729.3:p.Tyr2372LeufsTer5
ENST00000382298.7:c.7114dup ENSP00000371735.3:p.Tyr2372LeufsTer5
ENST00000402364.1:c.4864dup ENSP00000385844.1:p.Tyr1622LeufsTer5
ENST00000423156.1:c.1058-7278dup ENSP00000390925.1:n.1058-7278dup
ENST00000455470.5:c.2129+4683dup
NM_001278055.1:c.6673dup NP_001264984.1:p.Tyr2225LeufsTer5
NM_014363.5:c.7114dup NP_055178.3:p.Tyr2372LeufsTer5
XM_005266338.1:c.7141dup XP_005266395.1:p.Tyr2381LeufsTer5
XM_011535038.1:c.7165dup XP_011533340.1:p.Tyr2389LeufsTer5
XM_011535039.1:c.7132dup XP_011533341.1:p.Tyr2378LeufsTer5
XM_005266338.2:c.7141dup XP_005266395.1:p.Tyr2381LeufsTer5
XM_011535039.2:c.7132dup XP_011533341.1:p.Tyr2378LeufsTer5
XM_017020539.1:c.7105dup XP_016876028.1:p.Tyr2369LeufsTer5
XM_024449337.1:c.7141dup XP_024305105.1:p.Tyr2381LeufsTer5
NM_014363.6:c.7114dup MANE Select NP_055178.3:p.Tyr2372LeufsTer5
NM_001278055.2:c.6673dup NP_001264984.1:p.Tyr2225LeufsTer5
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