Canonical Allele Identifier: CA2739277466

Gene: SACS

Linked Data

• ClinVar Variation Id: 2814351
• ClinVar RCV Id: RCV003751802

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336228del , CM000675.2:g.23336228del	GRCh38
NC_000013.10:g.23910367del , CM000675.1:g.23910367del	GRCh37
NC_000013.9:g.22808367del	NCBI36
NG_012342.1:g.102475del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17557del	ENSP00000508399.1:n.2185+17557del
ENST00000682944.1:c.7675del	ENSP00000507173.1:p.Leu2559PhefsTer?
ENST00000683210.1:c.2185+17557del	ENSP00000506739.1:n.2185+17557del
ENST00000683270.1:c.6445+1194del	ENSP00000507624.1:n.6445+1194del
ENST00000683367.1:c.2177-6744del	ENSP00000507780.1:n.2177-6744del
ENST00000683489.1:c.2291+5357del	ENSP00000508403.1:n.2291+5357del
ENST00000683680.1:c.2318+5357del	ENSP00000507223.1:n.2318+5357del
ENST00000684163.1:c.2204-6744del	ENSP00000508262.1:n.2204-6744del
ENST00000684196.1:n.4543-6744del
ENST00000684325.1:c.2186-14554del	ENSP00000508121.1:n.2186-14554del
ENST00000684385.1:c.2221-6744del	ENSP00000507855.1:n.2221-6744del
ENST00000684497.1:c.2186-13584del	ENSP00000507057.1:n.2186-13584del
ENST00000382292.9:c.7648del MANE Select	ENSP00000371729.3:p.Leu2550PhefsTer?
ENST00000423156.2:c.2186-6744del	ENSP00000390925.2:n.2186-6744del
ENST00000455470.6:c.2431+5217del	ENSP00000406565.2:n.2431+5217del
ENST00000382292.7:c.7648del	ENSP00000371729.3:p.Leu2550PhefsTer?
ENST00000382298.7:c.7648del	ENSP00000371735.3:p.Leu2550PhefsTer?
ENST00000402364.1:c.5398del	ENSP00000385844.1:p.Leu1800PhefsTer?
ENST00000423156.1:c.1058-6744del	ENSP00000390925.1:n.1058-6744del
ENST00000455470.5:c.2129+5217del
NM_001278055.1:c.7207del	NP_001264984.1:p.Leu2403PhefsTer?
NM_014363.5:c.7648del	NP_055178.3:p.Leu2550PhefsTer?
XM_005266338.1:c.7675del	XP_005266395.1:p.Leu2559PhefsTer?
XM_011535038.1:c.7699del	XP_011533340.1:p.Leu2567PhefsTer?
XM_011535039.1:c.7666del	XP_011533341.1:p.Leu2556PhefsTer?
XM_005266338.2:c.7675del	XP_005266395.1:p.Leu2559PhefsTer?
XM_011535039.2:c.7666del	XP_011533341.1:p.Leu2556PhefsTer?
XM_017020539.1:c.7639del	XP_016876028.1:p.Leu2547PhefsTer?
XM_024449337.1:c.7675del	XP_024305105.1:p.Leu2559PhefsTer?
NM_014363.6:c.7648del MANE Select	NP_055178.3:p.Leu2550PhefsTer?
NM_001278055.2:c.7207del	NP_001264984.1:p.Leu2403PhefsTer?