Canonical Allele Identifier: CA2622328870

Gene: SACS

Linked Data

• gnomAD v4: 13-23331086-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331088del , CM000675.2:g.23331088del	GRCh38
NC_000013.10:g.23905227del , CM000675.1:g.23905227del	GRCh37
NC_000013.9:g.22803227del	NCBI36
NG_012342.1:g.107616del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18972del	ENSP00000508399.1:n.2186-18972del
ENST00000682944.1:c.12816del	ENSP00000507173.1:p.Ser4273AlafsTer10
ENST00000683210.1:c.2185+22698del	ENSP00000506739.1:n.2185+22698del
ENST00000683270.1:c.6446-1603del	ENSP00000507624.1:n.6446-1603del
ENST00000683367.1:c.2177-1603del	ENSP00000507780.1:n.2177-1603del
ENST00000683489.1:c.2292-1135del	ENSP00000508403.1:n.2292-1135del
ENST00000683680.1:c.2319-1135del	ENSP00000507223.1:n.2319-1135del
ENST00000684163.1:c.2204-1603del	ENSP00000508262.1:n.2204-1603del
ENST00000684196.1:n.4543-1603del
ENST00000684325.1:c.2186-9413del	ENSP00000508121.1:n.2186-9413del
ENST00000684385.1:c.2221-1603del	ENSP00000507855.1:n.2221-1603del
ENST00000684497.1:c.2186-8443del	ENSP00000507057.1:n.2186-8443del
ENST00000382292.9:c.12789del MANE Select	ENSP00000371729.3:p.Ser4264AlafsTer10
ENST00000423156.2:c.2186-1603del	ENSP00000390925.2:n.2186-1603del
ENST00000455470.6:c.2432-1603del	ENSP00000406565.2:n.2432-1603del
ENST00000382292.7:c.12789del	ENSP00000371729.3:p.Ser4264AlafsTer10
ENST00000382298.7:c.12789del	ENSP00000371735.3:p.Ser4264AlafsTer10
ENST00000402364.1:c.10539del	ENSP00000385844.1:p.Ser3514AlafsTer10
ENST00000423156.1:c.1058-1603del	ENSP00000390925.1:n.1058-1603del
ENST00000455470.5:c.2130-1603del
NM_001278055.1:c.12348del	NP_001264984.1:p.Ser4117AlafsTer10
NM_014363.5:c.12789del	NP_055178.3:p.Ser4264AlafsTer10
XM_005266338.1:c.12816del	XP_005266395.1:p.Ser4273AlafsTer10
XM_011535038.1:c.12840del	XP_011533340.1:p.Ser4281AlafsTer10
XM_011535039.1:c.12807del	XP_011533341.1:p.Ser4270AlafsTer10
XM_005266338.2:c.12816del	XP_005266395.1:p.Ser4273AlafsTer10
XM_011535039.2:c.12807del	XP_011533341.1:p.Ser4270AlafsTer10
XM_017020539.1:c.12780del	XP_016876028.1:p.Ser4261AlafsTer10
XM_024449337.1:c.12816del	XP_024305105.1:p.Ser4273AlafsTer10
NM_014363.6:c.12789del MANE Select	NP_055178.3:p.Ser4264AlafsTer10
NM_001278055.2:c.12348del	NP_001264984.1:p.Ser4117AlafsTer10