Canonical Allele Identifier: CA608985287

Gene: SACS

Linked Data

• dbSNP Id: rs1197771659
• gnomAD v2: 13-23929410-GAA-G
• MyVariant Identifiers: chr13:g.23929411_23929412del (hg19) ; chr13:g.23355272_23355273del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355273_23355274del , CM000675.2:g.23355273_23355274del	GRCh38
NC_000013.10:g.23929412_23929413del , CM000675.1:g.23929412_23929413del	GRCh37
NC_000013.9:g.22827412_22827413del	NCBI36
NG_012342.1:g.83430_83431del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1339_1340del	ENSP00000508399.1:p.Phe447ProfsTer7
ENST00000682944.1:c.1339_1340del	ENSP00000507173.1:p.Phe447ProfsTer7
ENST00000683154.1:n.1477_1478del
ENST00000683210.1:c.1339_1340del	ENSP00000506739.1:p.Phe447ProfsTer7
ENST00000683270.1:c.1330_1331del	ENSP00000507624.1:p.Phe444ProfsTer7
ENST00000683367.1:c.1330_1331del	ENSP00000507780.1:p.Phe444ProfsTer7
ENST00000683489.1:c.1339_1340del	ENSP00000508403.1:p.Phe447ProfsTer7
ENST00000683680.1:c.1339_1340del	ENSP00000507223.1:p.Phe447ProfsTer7
ENST00000684163.1:c.1330_1331del	ENSP00000508262.1:p.Phe444ProfsTer7
ENST00000684196.1:n.3696_3697del
ENST00000684325.1:c.1339_1340del	ENSP00000508121.1:p.Phe447ProfsTer7
ENST00000684385.1:c.1339_1340del	ENSP00000507855.1:p.Phe447ProfsTer7
ENST00000684497.1:c.1339_1340del	ENSP00000507057.1:p.Phe447ProfsTer7
ENST00000382292.9:c.1339_1340del MANE Select	ENSP00000371729.3:p.Phe447ProfsTer7
ENST00000423156.2:c.1339_1340del	ENSP00000390925.2:p.Phe447ProfsTer7
ENST00000455470.6:c.1339_1340del	ENSP00000406565.2:p.Phe447ProfsTer7
ENST00000382292.7:c.1339_1340del	ENSP00000371729.3:p.Phe447ProfsTer7
ENST00000382298.7:c.1339_1340del	ENSP00000371735.3:p.Phe447ProfsTer7
ENST00000402364.1:c.-912_-911del	ENSP00000385844.1:n.-912_-911del
ENST00000423156.1:c.211_212del	ENSP00000390925.1:p.Phe71ProfsTer7
ENST00000455470.5:c.1037_1038del
NM_001278055.1:c.898_899del	NP_001264984.1:p.Phe300ProfsTer7
NM_014363.5:c.1339_1340del	NP_055178.3:p.Phe447ProfsTer7
XM_005266338.1:c.1339_1340del	XP_005266395.1:p.Phe447ProfsTer7
XM_011535038.1:c.1363_1364del	XP_011533340.1:p.Phe455ProfsTer7
XM_011535039.1:c.1330_1331del	XP_011533341.1:p.Phe444ProfsTer7
XM_005266338.2:c.1339_1340del	XP_005266395.1:p.Phe447ProfsTer7
XM_011535039.2:c.1330_1331del	XP_011533341.1:p.Phe444ProfsTer7
XM_017020539.1:c.1330_1331del	XP_016876028.1:p.Phe444ProfsTer7
XM_024449337.1:c.1339_1340del	XP_024305105.1:p.Phe447ProfsTer7
NM_014363.6:c.1339_1340del MANE Select	NP_055178.3:p.Phe447ProfsTer7
NM_001278055.2:c.898_899del	NP_001264984.1:p.Phe300ProfsTer7