Canonical Allele Identifier: CA2622331280

Gene: SACS

Linked Data

• gnomAD v4: 13-23355263-AAAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355270_23355273del , CM000675.2:g.23355270_23355273del	GRCh38
NC_000013.10:g.23929409_23929412del , CM000675.1:g.23929409_23929412del	GRCh37
NC_000013.9:g.22827409_22827412del	NCBI36
NG_012342.1:g.83436_83439del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.1345_1348del	ENSP00000508399.1:p.Pro449TyrfsTer28
ENST00000682944.1:c.1345_1348del	ENSP00000507173.1:p.Pro449TyrfsTer28
ENST00000683154.1:n.1483_1486del
ENST00000683210.1:c.1345_1348del	ENSP00000506739.1:p.Pro449TyrfsTer28
ENST00000683270.1:c.1336_1339del	ENSP00000507624.1:p.Pro446TyrfsTer28
ENST00000683367.1:c.1336_1339del	ENSP00000507780.1:p.Pro446TyrfsTer28
ENST00000683489.1:c.1345_1348del	ENSP00000508403.1:p.Pro449TyrfsTer28
ENST00000683680.1:c.1345_1348del	ENSP00000507223.1:p.Pro449TyrfsTer28
ENST00000684163.1:c.1336_1339del	ENSP00000508262.1:p.Pro446TyrfsTer28
ENST00000684196.1:n.3702_3705del
ENST00000684325.1:c.1345_1348del	ENSP00000508121.1:p.Pro449TyrfsTer28
ENST00000684385.1:c.1345_1348del	ENSP00000507855.1:p.Pro449TyrfsTer28
ENST00000684497.1:c.1345_1348del	ENSP00000507057.1:p.Pro449TyrfsTer28
ENST00000382292.9:c.1345_1348del MANE Select	ENSP00000371729.3:p.Pro449TyrfsTer28
ENST00000423156.2:c.1345_1348del	ENSP00000390925.2:p.Pro449TyrfsTer28
ENST00000455470.6:c.1345_1348del	ENSP00000406565.2:p.Pro449TyrfsTer28
ENST00000382292.7:c.1345_1348del	ENSP00000371729.3:p.Pro449TyrfsTer28
ENST00000382298.7:c.1345_1348del	ENSP00000371735.3:p.Pro449TyrfsTer28
ENST00000402364.1:c.-906_-903del	ENSP00000385844.1:n.-906_-903del
ENST00000423156.1:c.217_220del	ENSP00000390925.1:p.Pro73TyrfsTer28
ENST00000455470.5:c.1043_1046del
NM_001278055.1:c.904_907del	NP_001264984.1:p.Pro302TyrfsTer28
NM_014363.5:c.1345_1348del	NP_055178.3:p.Pro449TyrfsTer28
XM_005266338.1:c.1345_1348del	XP_005266395.1:p.Pro449TyrfsTer28
XM_011535038.1:c.1369_1372del	XP_011533340.1:p.Pro457TyrfsTer28
XM_011535039.1:c.1336_1339del	XP_011533341.1:p.Pro446TyrfsTer28
XM_005266338.2:c.1345_1348del	XP_005266395.1:p.Pro449TyrfsTer28
XM_011535039.2:c.1336_1339del	XP_011533341.1:p.Pro446TyrfsTer28
XM_017020539.1:c.1336_1339del	XP_016876028.1:p.Pro446TyrfsTer28
XM_024449337.1:c.1345_1348del	XP_024305105.1:p.Pro449TyrfsTer28
NM_014363.6:c.1345_1348del MANE Select	NP_055178.3:p.Pro449TyrfsTer28
NM_001278055.2:c.904_907del	NP_001264984.1:p.Pro302TyrfsTer28