Canonical Allele Identifier: CA2580086924

Gene: SACS

Linked Data

• ClinVar Variation Id: 1957872
• ClinVar RCV Id: RCV002690955
• gnomAD v4: 13-23336655-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336657_23336658del , CM000675.2:g.23336657_23336658del	GRCh38
NC_000013.10:g.23910796_23910797del , CM000675.1:g.23910796_23910797del	GRCh37
NC_000013.9:g.22808796_22808797del	NCBI36
NG_012342.1:g.102046_102047del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17128_2185+17129del	ENSP00000508399.1:n.2185+17128_2185+17129del
ENST00000682944.1:c.7246_7247del	ENSP00000507173.1:p.Ile2416Ter
ENST00000683210.1:c.2185+17128_2185+17129del	ENSP00000506739.1:n.2185+17128_2185+17129del
ENST00000683270.1:c.6445+765_6445+766del	ENSP00000507624.1:n.6445+765_6445+766del
ENST00000683367.1:c.2177-7173_2177-7172del	ENSP00000507780.1:n.2177-7173_2177-7172del
ENST00000683489.1:c.2291+4928_2291+4929del	ENSP00000508403.1:n.2291+4928_2291+4929del
ENST00000683680.1:c.2318+4928_2318+4929del	ENSP00000507223.1:n.2318+4928_2318+4929del
ENST00000684163.1:c.2204-7173_2204-7172del	ENSP00000508262.1:n.2204-7173_2204-7172del
ENST00000684196.1:n.4543-7173_4543-7172del
ENST00000684325.1:c.2186-14983_2186-14982del	ENSP00000508121.1:n.2186-14983_2186-14982del
ENST00000684385.1:c.2221-7173_2221-7172del	ENSP00000507855.1:n.2221-7173_2221-7172del
ENST00000684497.1:c.2186-14013_2186-14012del	ENSP00000507057.1:n.2186-14013_2186-14012del
ENST00000382292.9:c.7219_7220del MANE Select	ENSP00000371729.3:p.Ile2407Ter
ENST00000423156.2:c.2186-7173_2186-7172del	ENSP00000390925.2:n.2186-7173_2186-7172del
ENST00000455470.6:c.2431+4788_2431+4789del	ENSP00000406565.2:n.2431+4788_2431+4789del
ENST00000382292.7:c.7219_7220del	ENSP00000371729.3:p.Ile2407Ter
ENST00000382298.7:c.7219_7220del	ENSP00000371735.3:p.Ile2407Ter
ENST00000402364.1:c.4969_4970del	ENSP00000385844.1:p.Ile1657Ter
ENST00000423156.1:c.1058-7173_1058-7172del	ENSP00000390925.1:n.1058-7173_1058-7172del
ENST00000455470.5:c.2129+4788_2129+4789del
NM_001278055.1:c.6778_6779del	NP_001264984.1:p.Ile2260Ter
NM_014363.5:c.7219_7220del	NP_055178.3:p.Ile2407Ter
XM_005266338.1:c.7246_7247del	XP_005266395.1:p.Ile2416Ter
XM_011535038.1:c.7270_7271del	XP_011533340.1:p.Ile2424Ter
XM_011535039.1:c.7237_7238del	XP_011533341.1:p.Ile2413Ter
XM_005266338.2:c.7246_7247del	XP_005266395.1:p.Ile2416Ter
XM_011535039.2:c.7237_7238del	XP_011533341.1:p.Ile2413Ter
XM_017020539.1:c.7210_7211del	XP_016876028.1:p.Ile2404Ter
XM_024449337.1:c.7246_7247del	XP_024305105.1:p.Ile2416Ter
NM_014363.6:c.7219_7220del MANE Select	NP_055178.3:p.Ile2407Ter
NM_001278055.2:c.6778_6779del	NP_001264984.1:p.Ile2260Ter