Canonical Allele Identifier: CA2622329009

Gene: SACS

Linked Data

• gnomAD v4: 13-23337212-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337216dup , CM000675.2:g.23337216dup	GRCh38
NC_000013.10:g.23911355dup , CM000675.1:g.23911355dup	GRCh37
NC_000013.9:g.22809355dup	NCBI36
NG_012342.1:g.101490dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16572dup	ENSP00000508399.1:n.2185+16572dup
ENST00000682944.1:c.6690dup	ENSP00000507173.1:p.Pro2231ThrfsTer14
ENST00000683210.1:c.2185+16572dup	ENSP00000506739.1:n.2185+16572dup
ENST00000683270.1:c.6445+209dup	ENSP00000507624.1:n.6445+209dup
ENST00000683367.1:c.2177-7729dup	ENSP00000507780.1:n.2177-7729dup
ENST00000683489.1:c.2291+4372dup	ENSP00000508403.1:n.2291+4372dup
ENST00000683680.1:c.2318+4372dup	ENSP00000507223.1:n.2318+4372dup
ENST00000684163.1:c.2204-7729dup	ENSP00000508262.1:n.2204-7729dup
ENST00000684196.1:n.4543-7729dup
ENST00000684325.1:c.2186-15539dup	ENSP00000508121.1:n.2186-15539dup
ENST00000684385.1:c.2221-7729dup	ENSP00000507855.1:n.2221-7729dup
ENST00000684497.1:c.2186-14569dup	ENSP00000507057.1:n.2186-14569dup
ENST00000382292.9:c.6663dup MANE Select	ENSP00000371729.3:p.Pro2222ThrfsTer14
ENST00000423156.2:c.2186-7729dup	ENSP00000390925.2:n.2186-7729dup
ENST00000455470.6:c.2431+4232dup	ENSP00000406565.2:n.2431+4232dup
ENST00000382292.7:c.6663dup	ENSP00000371729.3:p.Pro2222ThrfsTer14
ENST00000382298.7:c.6663dup	ENSP00000371735.3:p.Pro2222ThrfsTer14
ENST00000402364.1:c.4413dup	ENSP00000385844.1:p.Pro1472ThrfsTer14
ENST00000423156.1:c.1058-7729dup	ENSP00000390925.1:n.1058-7729dup
ENST00000455470.5:c.2129+4232dup
NM_001278055.1:c.6222dup	NP_001264984.1:p.Pro2075ThrfsTer14
NM_014363.5:c.6663dup	NP_055178.3:p.Pro2222ThrfsTer14
XM_005266338.1:c.6690dup	XP_005266395.1:p.Pro2231ThrfsTer14
XM_011535038.1:c.6714dup	XP_011533340.1:p.Pro2239ThrfsTer14
XM_011535039.1:c.6681dup	XP_011533341.1:p.Pro2228ThrfsTer14
XM_005266338.2:c.6690dup	XP_005266395.1:p.Pro2231ThrfsTer14
XM_011535039.2:c.6681dup	XP_011533341.1:p.Pro2228ThrfsTer14
XM_017020539.1:c.6654dup	XP_016876028.1:p.Pro2219ThrfsTer14
XM_024449337.1:c.6690dup	XP_024305105.1:p.Pro2231ThrfsTer14
NM_014363.6:c.6663dup MANE Select	NP_055178.3:p.Pro2222ThrfsTer14
NM_001278055.2:c.6222dup	NP_001264984.1:p.Pro2075ThrfsTer14