Canonical Allele Identifier: CA2622329021

Gene: SACS

Linked Data

• gnomAD v4: 13-23336566-CTAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336568_23336570del , CM000675.2:g.23336568_23336570del	GRCh38
NC_000013.10:g.23910707_23910709del , CM000675.1:g.23910707_23910709del	GRCh37
NC_000013.9:g.22808707_22808709del	NCBI36
NG_012342.1:g.102134_102136del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17216_2185+17218del	ENSP00000508399.1:n.2185+17216_2185+17218del
ENST00000682944.1:c.7334_7336del	ENSP00000507173.1:p.Ile2445del
ENST00000683210.1:c.2185+17216_2185+17218del	ENSP00000506739.1:n.2185+17216_2185+17218del
ENST00000683270.1:c.6445+853_6445+855del	ENSP00000507624.1:n.6445+853_6445+855del
ENST00000683367.1:c.2177-7085_2177-7083del	ENSP00000507780.1:n.2177-7085_2177-7083del
ENST00000683489.1:c.2291+5016_2291+5018del	ENSP00000508403.1:n.2291+5016_2291+5018del
ENST00000683680.1:c.2318+5016_2318+5018del	ENSP00000507223.1:n.2318+5016_2318+5018del
ENST00000684163.1:c.2204-7085_2204-7083del	ENSP00000508262.1:n.2204-7085_2204-7083del
ENST00000684196.1:n.4543-7085_4543-7083del
ENST00000684325.1:c.2186-14895_2186-14893del	ENSP00000508121.1:n.2186-14895_2186-14893del
ENST00000684385.1:c.2221-7085_2221-7083del	ENSP00000507855.1:n.2221-7085_2221-7083del
ENST00000684497.1:c.2186-13925_2186-13923del	ENSP00000507057.1:n.2186-13925_2186-13923del
ENST00000382292.9:c.7307_7309del MANE Select	ENSP00000371729.3:p.Ile2436del
ENST00000423156.2:c.2186-7085_2186-7083del	ENSP00000390925.2:n.2186-7085_2186-7083del
ENST00000455470.6:c.2431+4876_2431+4878del	ENSP00000406565.2:n.2431+4876_2431+4878del
ENST00000382292.7:c.7307_7309del	ENSP00000371729.3:p.Ile2436del
ENST00000382298.7:c.7307_7309del	ENSP00000371735.3:p.Ile2436del
ENST00000402364.1:c.5057_5059del	ENSP00000385844.1:p.Ile1686del
ENST00000423156.1:c.1058-7085_1058-7083del	ENSP00000390925.1:n.1058-7085_1058-7083del
ENST00000455470.5:c.2129+4876_2129+4878del
NM_001278055.1:c.6866_6868del	NP_001264984.1:p.Ile2289del
NM_014363.5:c.7307_7309del	NP_055178.3:p.Ile2436del
XM_005266338.1:c.7334_7336del	XP_005266395.1:p.Ile2445del
XM_011535038.1:c.7358_7360del	XP_011533340.1:p.Ile2453del
XM_011535039.1:c.7325_7327del	XP_011533341.1:p.Ile2442del
XM_005266338.2:c.7334_7336del	XP_005266395.1:p.Ile2445del
XM_011535039.2:c.7325_7327del	XP_011533341.1:p.Ile2442del
XM_017020539.1:c.7298_7300del	XP_016876028.1:p.Ile2433del
XM_024449337.1:c.7334_7336del	XP_024305105.1:p.Ile2445del
NM_014363.6:c.7307_7309del MANE Select	NP_055178.3:p.Ile2436del
NM_001278055.2:c.6866_6868del	NP_001264984.1:p.Ile2289del