Canonical Allele Identifier: CA1139663027

Gene: SACS

Linked Data

• ClinVar Variation Id: 994456
• ClinVar RCV Id: RCV001287914
• dbSNP Id: rs1868615639

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336503del , CM000675.2:g.23336503del	GRCh38
NC_000013.10:g.23910642del , CM000675.1:g.23910642del	GRCh37
NC_000013.9:g.22808642del	NCBI36
NG_012342.1:g.102201del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17283del	ENSP00000508399.1:n.2185+17283del
ENST00000682944.1:c.7401del	ENSP00000507173.1:p.Met2468CysfsTer16
ENST00000683210.1:c.2185+17283del	ENSP00000506739.1:n.2185+17283del
ENST00000683270.1:c.6445+920del	ENSP00000507624.1:n.6445+920del
ENST00000683367.1:c.2177-7018del	ENSP00000507780.1:n.2177-7018del
ENST00000683489.1:c.2291+5083del	ENSP00000508403.1:n.2291+5083del
ENST00000683680.1:c.2318+5083del	ENSP00000507223.1:n.2318+5083del
ENST00000684163.1:c.2204-7018del	ENSP00000508262.1:n.2204-7018del
ENST00000684196.1:n.4543-7018del
ENST00000684325.1:c.2186-14828del	ENSP00000508121.1:n.2186-14828del
ENST00000684385.1:c.2221-7018del	ENSP00000507855.1:n.2221-7018del
ENST00000684497.1:c.2186-13858del	ENSP00000507057.1:n.2186-13858del
ENST00000382292.9:c.7374del MANE Select	ENSP00000371729.3:p.Met2459CysfsTer16
ENST00000423156.2:c.2186-7018del	ENSP00000390925.2:n.2186-7018del
ENST00000455470.6:c.2431+4943del	ENSP00000406565.2:n.2431+4943del
ENST00000382292.7:c.7374del	ENSP00000371729.3:p.Met2459CysfsTer16
ENST00000382298.7:c.7374del	ENSP00000371735.3:p.Met2459CysfsTer16
ENST00000402364.1:c.5124del	ENSP00000385844.1:p.Met1709CysfsTer16
ENST00000423156.1:c.1058-7018del	ENSP00000390925.1:n.1058-7018del
ENST00000455470.5:c.2129+4943del
NM_001278055.1:c.6933del	NP_001264984.1:p.Met2312CysfsTer16
NM_014363.5:c.7374del	NP_055178.3:p.Met2459CysfsTer16
XM_005266338.1:c.7401del	XP_005266395.1:p.Met2468CysfsTer16
XM_011535038.1:c.7425del	XP_011533340.1:p.Met2476CysfsTer16
XM_011535039.1:c.7392del	XP_011533341.1:p.Met2465CysfsTer16
XM_005266338.2:c.7401del	XP_005266395.1:p.Met2468CysfsTer16
XM_011535039.2:c.7392del	XP_011533341.1:p.Met2465CysfsTer16
XM_017020539.1:c.7365del	XP_016876028.1:p.Met2456CysfsTer16
XM_024449337.1:c.7401del	XP_024305105.1:p.Met2468CysfsTer16
NM_014363.6:c.7374del MANE Select	NP_055178.3:p.Met2459CysfsTer16
NM_001278055.2:c.6933del	NP_001264984.1:p.Met2312CysfsTer16