Canonical Allele Identifier: CA658823450

Gene: SACS

Linked Data

• ClinVar Variation Id: 554128
• ClinVar RCV Id: RCV000669699 ; RCV003588666 ; RCV003884702
• dbSNP Id: rs1555252136
• gnomAD v4: 13-23338569-ATGG-A
• MyVariant Identifiers: chr13:g.23338570_23338572del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338572_23338574del , CM000675.2:g.23338572_23338574del	GRCh38
NC_000013.10:g.23912711_23912713del , CM000675.1:g.23912711_23912713del	GRCh37
NC_000013.9:g.22810711_22810713del	NCBI36
NG_012342.1:g.100131_100133del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15213_2185+15215del	ENSP00000508399.1:n.2185+15213_2185+15215del
ENST00000682944.1:c.5331_5333del	ENSP00000507173.1:p.His1778del
ENST00000683210.1:c.2185+15213_2185+15215del	ENSP00000506739.1:n.2185+15213_2185+15215del
ENST00000683270.1:c.5295_5297del	ENSP00000507624.1:p.His1766del
ENST00000683367.1:c.2177-9088_2177-9086del	ENSP00000507780.1:n.2177-9088_2177-9086del
ENST00000683489.1:c.2291+3013_2291+3015del	ENSP00000508403.1:n.2291+3013_2291+3015del
ENST00000683680.1:c.2318+3013_2318+3015del	ENSP00000507223.1:n.2318+3013_2318+3015del
ENST00000684163.1:c.2203+8239_2203+8241del	ENSP00000508262.1:n.2203+8239_2203+8241del
ENST00000684196.1:n.4543-9088_4543-9086del
ENST00000684325.1:c.2185+15213_2185+15215del	ENSP00000508121.1:n.2185+15213_2185+15215del
ENST00000684385.1:c.2220+8239_2220+8241del	ENSP00000507855.1:n.2220+8239_2220+8241del
ENST00000684497.1:c.2185+15213_2185+15215del	ENSP00000507057.1:n.2185+15213_2185+15215del
ENST00000382292.9:c.5304_5306del MANE Select	ENSP00000371729.3:p.His1769del
ENST00000423156.2:c.2186-9088_2186-9086del	ENSP00000390925.2:n.2186-9088_2186-9086del
ENST00000455470.6:c.2431+2873_2431+2875del	ENSP00000406565.2:n.2431+2873_2431+2875del
ENST00000382292.7:c.5304_5306del	ENSP00000371729.3:p.His1769del
ENST00000382298.7:c.5304_5306del	ENSP00000371735.3:p.His1769del
ENST00000402364.1:c.3054_3056del	ENSP00000385844.1:p.His1019del
ENST00000423156.1:c.1058-9088_1058-9086del	ENSP00000390925.1:n.1058-9088_1058-9086del
ENST00000455470.5:c.2129+2873_2129+2875del
NM_001278055.1:c.4863_4865del	NP_001264984.1:p.His1622del
NM_014363.5:c.5304_5306del	NP_055178.3:p.His1769del
XM_005266338.1:c.5331_5333del	XP_005266395.1:p.His1778del
XM_011535038.1:c.5355_5357del	XP_011533340.1:p.His1786del
XM_011535039.1:c.5322_5324del	XP_011533341.1:p.His1775del
XM_005266338.2:c.5331_5333del	XP_005266395.1:p.His1778del
XM_011535039.2:c.5322_5324del	XP_011533341.1:p.His1775del
XM_017020539.1:c.5295_5297del	XP_016876028.1:p.His1766del
XM_024449337.1:c.5331_5333del	XP_024305105.1:p.His1778del
NM_014363.6:c.5304_5306del MANE Select	NP_055178.3:p.His1769del
NM_001278055.2:c.4863_4865del	NP_001264984.1:p.His1622del