Canonical Allele Identifier: CA2622328978

Gene: SACS

Linked Data

• gnomAD v4: 13-23335464-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335465dup , CM000675.2:g.23335465dup	GRCh38
NC_000013.10:g.23909604dup , CM000675.1:g.23909604dup	GRCh37
NC_000013.9:g.22807604dup	NCBI36
NG_012342.1:g.103238dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18320dup	ENSP00000508399.1:n.2185+18320dup
ENST00000682944.1:c.8438dup	ENSP00000507173.1:p.Tyr2813Ter
ENST00000683210.1:c.2185+18320dup	ENSP00000506739.1:n.2185+18320dup
ENST00000683270.1:c.6445+1957dup	ENSP00000507624.1:n.6445+1957dup
ENST00000683367.1:c.2177-5981dup	ENSP00000507780.1:n.2177-5981dup
ENST00000683489.1:c.2292-5513dup	ENSP00000508403.1:n.2292-5513dup
ENST00000683680.1:c.2319-5513dup	ENSP00000507223.1:n.2319-5513dup
ENST00000684163.1:c.2204-5981dup	ENSP00000508262.1:n.2204-5981dup
ENST00000684196.1:n.4543-5981dup
ENST00000684325.1:c.2186-13791dup	ENSP00000508121.1:n.2186-13791dup
ENST00000684385.1:c.2221-5981dup	ENSP00000507855.1:n.2221-5981dup
ENST00000684497.1:c.2186-12821dup	ENSP00000507057.1:n.2186-12821dup
ENST00000382292.9:c.8411dup MANE Select	ENSP00000371729.3:p.Tyr2804Ter
ENST00000423156.2:c.2186-5981dup	ENSP00000390925.2:n.2186-5981dup
ENST00000455470.6:c.2432-5981dup	ENSP00000406565.2:n.2432-5981dup
ENST00000382292.7:c.8411dup	ENSP00000371729.3:p.Tyr2804Ter
ENST00000382298.7:c.8411dup	ENSP00000371735.3:p.Tyr2804Ter
ENST00000402364.1:c.6161dup	ENSP00000385844.1:p.Tyr2054Ter
ENST00000423156.1:c.1058-5981dup	ENSP00000390925.1:n.1058-5981dup
ENST00000455470.5:c.2130-5981dup
NM_001278055.1:c.7970dup	NP_001264984.1:p.Tyr2657Ter
NM_014363.5:c.8411dup	NP_055178.3:p.Tyr2804Ter
XM_005266338.1:c.8438dup	XP_005266395.1:p.Tyr2813Ter
XM_011535038.1:c.8462dup	XP_011533340.1:p.Tyr2821Ter
XM_011535039.1:c.8429dup	XP_011533341.1:p.Tyr2810Ter
XM_005266338.2:c.8438dup	XP_005266395.1:p.Tyr2813Ter
XM_011535039.2:c.8429dup	XP_011533341.1:p.Tyr2810Ter
XM_017020539.1:c.8402dup	XP_016876028.1:p.Tyr2801Ter
XM_024449337.1:c.8438dup	XP_024305105.1:p.Tyr2813Ter
NM_014363.6:c.8411dup MANE Select	NP_055178.3:p.Tyr2804Ter
NM_001278055.2:c.7970dup	NP_001264984.1:p.Tyr2657Ter