Canonical Allele Identifier: CA233204

Gene: SACS

Linked Data

• ClinVar Variation Id: 156344
• ClinVar RCV Id: RCV000144428
• dbSNP Id: rs199474696
• gnomAD v4: 13-23338611-CTT-C
• MyVariant Identifiers: chr13:g.23912751_23912752del (hg19) ; chr13:g.23338612_23338613del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338613_23338614del , CM000675.2:g.23338613_23338614del	GRCh38
NC_000013.10:g.23912752_23912753del , CM000675.1:g.23912752_23912753del	GRCh37
NC_000013.9:g.22810752_22810753del	NCBI36
NG_012342.1:g.100090_100091del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15172_2185+15173del	ENSP00000508399.1:n.2185+15172_2185+15173del
ENST00000682944.1:c.5290_5291del	ENSP00000507173.1:p.Lys1764ValfsTer21
ENST00000683210.1:c.2185+15172_2185+15173del	ENSP00000506739.1:n.2185+15172_2185+15173del
ENST00000683270.1:c.5254_5255del	ENSP00000507624.1:p.Lys1752ValfsTer21
ENST00000683367.1:c.2177-9129_2177-9128del	ENSP00000507780.1:n.2177-9129_2177-9128del
ENST00000683489.1:c.2291+2972_2291+2973del	ENSP00000508403.1:n.2291+2972_2291+2973del
ENST00000683680.1:c.2318+2972_2318+2973del	ENSP00000507223.1:n.2318+2972_2318+2973del
ENST00000684163.1:c.2203+8198_2203+8199del	ENSP00000508262.1:n.2203+8198_2203+8199del
ENST00000684196.1:n.4543-9129_4543-9128del
ENST00000684325.1:c.2185+15172_2185+15173del	ENSP00000508121.1:n.2185+15172_2185+15173del
ENST00000684385.1:c.2220+8198_2220+8199del	ENSP00000507855.1:n.2220+8198_2220+8199del
ENST00000684497.1:c.2185+15172_2185+15173del	ENSP00000507057.1:n.2185+15172_2185+15173del
ENST00000382292.9:c.5263_5264del MANE Select	ENSP00000371729.3:p.Lys1755ValfsTer21
ENST00000423156.2:c.2186-9129_2186-9128del	ENSP00000390925.2:n.2186-9129_2186-9128del
ENST00000455470.6:c.2431+2832_2431+2833del	ENSP00000406565.2:n.2431+2832_2431+2833del
ENST00000382292.7:c.5263_5264del	ENSP00000371729.3:p.Lys1755ValfsTer21
ENST00000382298.7:c.5263_5264del	ENSP00000371735.3:p.Lys1755ValfsTer21
ENST00000402364.1:c.3013_3014del	ENSP00000385844.1:p.Lys1005ValfsTer21
ENST00000423156.1:c.1058-9129_1058-9128del	ENSP00000390925.1:n.1058-9129_1058-9128del
ENST00000455470.5:c.2129+2832_2129+2833del
NM_001278055.1:c.4822_4823del	NP_001264984.1:p.Lys1608ValfsTer21
NM_014363.5:c.5263_5264del	NP_055178.3:p.Lys1755ValfsTer21
XM_005266338.1:c.5290_5291del	XP_005266395.1:p.Lys1764ValfsTer21
XM_011535038.1:c.5314_5315del	XP_011533340.1:p.Lys1772ValfsTer21
XM_011535039.1:c.5281_5282del	XP_011533341.1:p.Lys1761ValfsTer21
XM_005266338.2:c.5290_5291del	XP_005266395.1:p.Lys1764ValfsTer21
XM_011535039.2:c.5281_5282del	XP_011533341.1:p.Lys1761ValfsTer21
XM_017020539.1:c.5254_5255del	XP_016876028.1:p.Lys1752ValfsTer21
XM_024449337.1:c.5290_5291del	XP_024305105.1:p.Lys1764ValfsTer21
NM_014363.6:c.5263_5264del MANE Select	NP_055178.3:p.Lys1755ValfsTer21
NM_001278055.2:c.4822_4823del	NP_001264984.1:p.Lys1608ValfsTer21