Canonical Allele Identifier: CA2622329019

Gene: SACS

Linked Data

• ClinVar Variation Id: 3010735
• ClinVar RCV Id: RCV003862374
• gnomAD v4: 13-23336552-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336553_23336554del , CM000675.2:g.23336553_23336554del	GRCh38
NC_000013.10:g.23910692_23910693del , CM000675.1:g.23910692_23910693del	GRCh37
NC_000013.9:g.22808692_22808693del	NCBI36
NG_012342.1:g.102149_102150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17231_2185+17232del	ENSP00000508399.1:n.2185+17231_2185+17232del
ENST00000682944.1:c.7349_7350del	ENSP00000507173.1:p.Gln2450ArgfsTer4
ENST00000683210.1:c.2185+17231_2185+17232del	ENSP00000506739.1:n.2185+17231_2185+17232del
ENST00000683270.1:c.6445+868_6445+869del	ENSP00000507624.1:n.6445+868_6445+869del
ENST00000683367.1:c.2177-7070_2177-7069del	ENSP00000507780.1:n.2177-7070_2177-7069del
ENST00000683489.1:c.2291+5031_2291+5032del	ENSP00000508403.1:n.2291+5031_2291+5032del
ENST00000683680.1:c.2318+5031_2318+5032del	ENSP00000507223.1:n.2318+5031_2318+5032del
ENST00000684163.1:c.2204-7070_2204-7069del	ENSP00000508262.1:n.2204-7070_2204-7069del
ENST00000684196.1:n.4543-7070_4543-7069del
ENST00000684325.1:c.2186-14880_2186-14879del	ENSP00000508121.1:n.2186-14880_2186-14879del
ENST00000684385.1:c.2221-7070_2221-7069del	ENSP00000507855.1:n.2221-7070_2221-7069del
ENST00000684497.1:c.2186-13910_2186-13909del	ENSP00000507057.1:n.2186-13910_2186-13909del
ENST00000382292.9:c.7322_7323del MANE Select	ENSP00000371729.3:p.Gln2441ArgfsTer4
ENST00000423156.2:c.2186-7070_2186-7069del	ENSP00000390925.2:n.2186-7070_2186-7069del
ENST00000455470.6:c.2431+4891_2431+4892del	ENSP00000406565.2:n.2431+4891_2431+4892del
ENST00000382292.7:c.7322_7323del	ENSP00000371729.3:p.Gln2441ArgfsTer4
ENST00000382298.7:c.7322_7323del	ENSP00000371735.3:p.Gln2441ArgfsTer4
ENST00000402364.1:c.5072_5073del	ENSP00000385844.1:p.Gln1691ArgfsTer4
ENST00000423156.1:c.1058-7070_1058-7069del	ENSP00000390925.1:n.1058-7070_1058-7069del
ENST00000455470.5:c.2129+4891_2129+4892del
NM_001278055.1:c.6881_6882del	NP_001264984.1:p.Gln2294ArgfsTer4
NM_014363.5:c.7322_7323del	NP_055178.3:p.Gln2441ArgfsTer4
XM_005266338.1:c.7349_7350del	XP_005266395.1:p.Gln2450ArgfsTer4
XM_011535038.1:c.7373_7374del	XP_011533340.1:p.Gln2458ArgfsTer4
XM_011535039.1:c.7340_7341del	XP_011533341.1:p.Gln2447ArgfsTer4
XM_005266338.2:c.7349_7350del	XP_005266395.1:p.Gln2450ArgfsTer4
XM_011535039.2:c.7340_7341del	XP_011533341.1:p.Gln2447ArgfsTer4
XM_017020539.1:c.7313_7314del	XP_016876028.1:p.Gln2438ArgfsTer4
XM_024449337.1:c.7349_7350del	XP_024305105.1:p.Gln2450ArgfsTer4
NM_014363.6:c.7322_7323del MANE Select	NP_055178.3:p.Gln2441ArgfsTer4
NM_001278055.2:c.6881_6882del	NP_001264984.1:p.Gln2294ArgfsTer4