Canonical Allele Identifier: CA16041657
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 370860
ClinVar RCV Id: RCV000409711
dbSNP Id: rs1057516820
MyVariant Identifiers: chr13:g.23932609_23932610insC (hg19) chr13:g.23358470_23358471insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23358470_23358471insC , CM000675.2:g.23358470_23358471insC GRCh38
NC_000013.10:g.23932609_23932610insC , CM000675.1:g.23932609_23932610insC GRCh37
NC_000013.9:g.22830609_22830610insC NCBI36
NG_012342.1:g.80232_80233insG

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.468_469insG ENSP00000508399.1:p.Tyr157ValfsTer27
ENST00000682944.1:c.468_469insG ENSP00000507173.1:p.Tyr157ValfsTer27
ENST00000683154.1:n.606_607insG
ENST00000683210.1:c.468_469insG ENSP00000506739.1:p.Tyr157ValfsTer27
ENST00000683270.1:c.459_460insG ENSP00000507624.1:p.Tyr154ValfsTer27
ENST00000683367.1:c.459_460insG ENSP00000507780.1:p.Tyr154ValfsTer27
ENST00000683489.1:c.468_469insG ENSP00000508403.1:p.Tyr157ValfsTer27
ENST00000683680.1:c.468_469insG ENSP00000507223.1:p.Tyr157ValfsTer27
ENST00000684163.1:c.459_460insG ENSP00000508262.1:p.Tyr154ValfsTer27
ENST00000684196.1:n.2825_2826insG
ENST00000684325.1:c.468_469insG ENSP00000508121.1:p.Tyr157ValfsTer27
ENST00000684385.1:c.468_469insG ENSP00000507855.1:p.Tyr157ValfsTer27
ENST00000684497.1:c.468_469insG ENSP00000507057.1:p.Tyr157ValfsTer27
ENST00000382292.9:c.468_469insG MANE Select ENSP00000371729.3:p.Tyr157ValfsTer27
ENST00000423156.2:c.468_469insG ENSP00000390925.2:p.Tyr157ValfsTer27
ENST00000455470.6:c.468_469insG ENSP00000406565.2:p.Tyr157ValfsTer27
ENST00000382292.7:c.468_469insG ENSP00000371729.3:p.Tyr157ValfsTer27
ENST00000382298.7:c.468_469insG ENSP00000371735.3:p.Tyr157ValfsTer27
ENST00000402364.1:c.-1783_-1782insG ENSP00000385844.1:n.-1783_-1782insG
ENST00000455470.5:c.166_167insG
NM_001278055.1:c.27_28insG NP_001264984.1:p.Tyr10ValfsTer27
NM_014363.5:c.468_469insG NP_055178.3:p.Tyr157ValfsTer27
XM_005266338.1:c.468_469insG XP_005266395.1:p.Tyr157ValfsTer27
XM_011535038.1:c.492_493insG XP_011533340.1:p.Tyr165ValfsTer27
XM_011535039.1:c.459_460insG XP_011533341.1:p.Tyr154ValfsTer27
XM_005266338.2:c.468_469insG XP_005266395.1:p.Tyr157ValfsTer27
XM_011535039.2:c.459_460insG XP_011533341.1:p.Tyr154ValfsTer27
XM_017020539.1:c.459_460insG XP_016876028.1:p.Tyr154ValfsTer27
XM_024449337.1:c.468_469insG XP_024305105.1:p.Tyr157ValfsTer27
NM_014363.6:c.468_469insG MANE Select NP_055178.3:p.Tyr157ValfsTer27
NM_001278055.2:c.27_28insG NP_001264984.1:p.Tyr10ValfsTer27
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