Canonical Allele Identifier: CA2622328907

Gene: SACS

Linked Data

• gnomAD v4: 13-23332757-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332759del , CM000675.2:g.23332759del	GRCh38
NC_000013.10:g.23906898del , CM000675.1:g.23906898del	GRCh37
NC_000013.9:g.22804898del	NCBI36
NG_012342.1:g.105945del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-20643del	ENSP00000508399.1:n.2186-20643del
ENST00000682944.1:c.11145del	ENSP00000507173.1:p.Leu3716PhefsTer8
ENST00000683210.1:c.2185+21027del	ENSP00000506739.1:n.2185+21027del
ENST00000683270.1:c.6446-3274del	ENSP00000507624.1:n.6446-3274del
ENST00000683367.1:c.2177-3274del	ENSP00000507780.1:n.2177-3274del
ENST00000683489.1:c.2292-2806del	ENSP00000508403.1:n.2292-2806del
ENST00000683680.1:c.2319-2806del	ENSP00000507223.1:n.2319-2806del
ENST00000684163.1:c.2204-3274del	ENSP00000508262.1:n.2204-3274del
ENST00000684196.1:n.4543-3274del
ENST00000684325.1:c.2186-11084del	ENSP00000508121.1:n.2186-11084del
ENST00000684385.1:c.2221-3274del	ENSP00000507855.1:n.2221-3274del
ENST00000684497.1:c.2186-10114del	ENSP00000507057.1:n.2186-10114del
ENST00000382292.9:c.11118del MANE Select	ENSP00000371729.3:p.Leu3707PhefsTer8
ENST00000423156.2:c.2186-3274del	ENSP00000390925.2:n.2186-3274del
ENST00000455470.6:c.2432-3274del	ENSP00000406565.2:n.2432-3274del
ENST00000382292.7:c.11118del	ENSP00000371729.3:p.Leu3707PhefsTer8
ENST00000382298.7:c.11118del	ENSP00000371735.3:p.Leu3707PhefsTer8
ENST00000402364.1:c.8868del	ENSP00000385844.1:p.Leu2957PhefsTer8
ENST00000423156.1:c.1058-3274del	ENSP00000390925.1:n.1058-3274del
ENST00000455470.5:c.2130-3274del
NM_001278055.1:c.10677del	NP_001264984.1:p.Leu3560PhefsTer8
NM_014363.5:c.11118del	NP_055178.3:p.Leu3707PhefsTer8
XM_005266338.1:c.11145del	XP_005266395.1:p.Leu3716PhefsTer8
XM_011535038.1:c.11169del	XP_011533340.1:p.Leu3724PhefsTer8
XM_011535039.1:c.11136del	XP_011533341.1:p.Leu3713PhefsTer8
XM_005266338.2:c.11145del	XP_005266395.1:p.Leu3716PhefsTer8
XM_011535039.2:c.11136del	XP_011533341.1:p.Leu3713PhefsTer8
XM_017020539.1:c.11109del	XP_016876028.1:p.Leu3704PhefsTer8
XM_024449337.1:c.11145del	XP_024305105.1:p.Leu3716PhefsTer8
NM_014363.6:c.11118del MANE Select	NP_055178.3:p.Leu3707PhefsTer8
NM_001278055.2:c.10677del	NP_001264984.1:p.Leu3560PhefsTer8