Canonical Allele Identifier: CA2622329316

Gene: SACS

Linked Data

• ClinVar Variation Id: 2678561
• ClinVar RCV Id: RCV003466371
• gnomAD v4: 13-23339639-CAAGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339644_23339647del , CM000675.2:g.23339644_23339647del	GRCh38
NC_000013.10:g.23913783_23913786del , CM000675.1:g.23913783_23913786del	GRCh37
NC_000013.9:g.22811783_22811786del	NCBI36
NG_012342.1:g.99060_99063del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+14142_2185+14145del	ENSP00000508399.1:n.2185+14142_2185+14145...
ENST00000682944.1:c.4260_4263del	ENSP00000507173.1:p.Leu1421LysfsTer16
ENST00000683210.1:c.2185+14142_2185+14145del	ENSP00000506739.1:n.2185+14142_2185+14145...
ENST00000683270.1:c.4224_4227del	ENSP00000507624.1:p.Leu1409LysfsTer16
ENST00000683367.1:c.2177-10159_2177-10156del	ENSP00000507780.1:n.2177-10159_2177-10156...
ENST00000683489.1:c.2291+1942_2291+1945del	ENSP00000508403.1:n.2291+1942_2291+1945de...
ENST00000683680.1:c.2318+1942_2318+1945del	ENSP00000507223.1:n.2318+1942_2318+1945de...
ENST00000684163.1:c.2203+7168_2203+7171del	ENSP00000508262.1:n.2203+7168_2203+7171de...
ENST00000684196.1:n.4543-10159_4543-10156del
ENST00000684325.1:c.2185+14142_2185+14145del	ENSP00000508121.1:n.2185+14142_2185+14145...
ENST00000684385.1:c.2220+7168_2220+7171del	ENSP00000507855.1:n.2220+7168_2220+7171de...
ENST00000684497.1:c.2185+14142_2185+14145del	ENSP00000507057.1:n.2185+14142_2185+14145...
ENST00000382292.9:c.4233_4236del MANE Select	ENSP00000371729.3:p.Leu1412LysfsTer16
ENST00000423156.2:c.2186-10159_2186-10156del	ENSP00000390925.2:n.2186-10159_2186-10156...
ENST00000455470.6:c.2431+1802_2431+1805del	ENSP00000406565.2:n.2431+1802_2431+1805de...
ENST00000382292.7:c.4233_4236del	ENSP00000371729.3:p.Leu1412LysfsTer16
ENST00000382298.7:c.4233_4236del	ENSP00000371735.3:p.Leu1412LysfsTer16
ENST00000402364.1:c.1983_1986del	ENSP00000385844.1:p.Leu662LysfsTer16
ENST00000423156.1:c.1058-10159_1058-10156del	ENSP00000390925.1:n.1058-10159_1058-10156...
ENST00000455470.5:c.2129+1802_2129+1805del
NM_001278055.1:c.3792_3795del	NP_001264984.1:p.Leu1265LysfsTer16
NM_014363.5:c.4233_4236del	NP_055178.3:p.Leu1412LysfsTer16
XM_005266338.1:c.4260_4263del	XP_005266395.1:p.Leu1421LysfsTer16
XM_011535038.1:c.4284_4287del	XP_011533340.1:p.Leu1429LysfsTer16
XM_011535039.1:c.4251_4254del	XP_011533341.1:p.Leu1418LysfsTer16
XM_005266338.2:c.4260_4263del	XP_005266395.1:p.Leu1421LysfsTer16
XM_011535039.2:c.4251_4254del	XP_011533341.1:p.Leu1418LysfsTer16
XM_017020539.1:c.4224_4227del	XP_016876028.1:p.Leu1409LysfsTer16
XM_024449337.1:c.4260_4263del	XP_024305105.1:p.Leu1421LysfsTer16
NM_014363.6:c.4233_4236del MANE Select	NP_055178.3:p.Leu1412LysfsTer16
NM_001278055.2:c.3792_3795del	NP_001264984.1:p.Leu1265LysfsTer16