Canonical Allele Identifier: CA2622329042

Gene: SACS

Linked Data

• gnomAD v4: 13-23337862-CCAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337865_23337867del , CM000675.2:g.23337865_23337867del	GRCh38
NC_000013.10:g.23912004_23912006del , CM000675.1:g.23912004_23912006del	GRCh37
NC_000013.9:g.22810004_22810006del	NCBI36
NG_012342.1:g.100838_100840del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15920_2185+15922del	ENSP00000508399.1:n.2185+15920_2185+15922del
ENST00000682944.1:c.6038_6040del	ENSP00000507173.1:p.Val2013del
ENST00000683210.1:c.2185+15920_2185+15922del	ENSP00000506739.1:n.2185+15920_2185+15922del
ENST00000683270.1:c.6002_6004del	ENSP00000507624.1:p.Val2001del
ENST00000683367.1:c.2177-8381_2177-8379del	ENSP00000507780.1:n.2177-8381_2177-8379del
ENST00000683489.1:c.2291+3720_2291+3722del	ENSP00000508403.1:n.2291+3720_2291+3722del
ENST00000683680.1:c.2318+3720_2318+3722del	ENSP00000507223.1:n.2318+3720_2318+3722del
ENST00000684163.1:c.2204-8381_2204-8379del	ENSP00000508262.1:n.2204-8381_2204-8379del
ENST00000684196.1:n.4543-8381_4543-8379del
ENST00000684325.1:c.2185+15920_2185+15922del	ENSP00000508121.1:n.2185+15920_2185+15922del
ENST00000684385.1:c.2221-8381_2221-8379del	ENSP00000507855.1:n.2221-8381_2221-8379del
ENST00000684497.1:c.2186-15221_2186-15219del	ENSP00000507057.1:n.2186-15221_2186-15219del
ENST00000382292.9:c.6011_6013del MANE Select	ENSP00000371729.3:p.Val2004del
ENST00000423156.2:c.2186-8381_2186-8379del	ENSP00000390925.2:n.2186-8381_2186-8379del
ENST00000455470.6:c.2431+3580_2431+3582del	ENSP00000406565.2:n.2431+3580_2431+3582del
ENST00000382292.7:c.6011_6013del	ENSP00000371729.3:p.Val2004del
ENST00000382298.7:c.6011_6013del	ENSP00000371735.3:p.Val2004del
ENST00000402364.1:c.3761_3763del	ENSP00000385844.1:p.Val1254del
ENST00000423156.1:c.1058-8381_1058-8379del	ENSP00000390925.1:n.1058-8381_1058-8379del
ENST00000455470.5:c.2129+3580_2129+3582del
NM_001278055.1:c.5570_5572del	NP_001264984.1:p.Val1857del
NM_014363.5:c.6011_6013del	NP_055178.3:p.Val2004del
XM_005266338.1:c.6038_6040del	XP_005266395.1:p.Val2013del
XM_011535038.1:c.6062_6064del	XP_011533340.1:p.Val2021del
XM_011535039.1:c.6029_6031del	XP_011533341.1:p.Val2010del
XM_005266338.2:c.6038_6040del	XP_005266395.1:p.Val2013del
XM_011535039.2:c.6029_6031del	XP_011533341.1:p.Val2010del
XM_017020539.1:c.6002_6004del	XP_016876028.1:p.Val2001del
XM_024449337.1:c.6038_6040del	XP_024305105.1:p.Val2013del
NM_014363.6:c.6011_6013del MANE Select	NP_055178.3:p.Val2004del
NM_001278055.2:c.5570_5572del	NP_001264984.1:p.Val1857del