Canonical Allele Identifier: CA696636967

Gene: SACS

Linked Data

• dbSNP Id: rs1353769151
• MyVariant Identifiers: chr13:g.23912580del (hg19) ; chr13:g.23338441del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338441del , CM000675.2:g.23338441del	GRCh38
NC_000013.10:g.23912580del , CM000675.1:g.23912580del	GRCh37
NC_000013.9:g.22810580del	NCBI36
NG_012342.1:g.100262del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15344del	ENSP00000508399.1:n.2185+15344del
ENST00000682944.1:c.5462del	ENSP00000507173.1:p.Thr1821LysfsTer2
ENST00000683210.1:c.2185+15344del	ENSP00000506739.1:n.2185+15344del
ENST00000683270.1:c.5426del	ENSP00000507624.1:p.Thr1809LysfsTer2
ENST00000683367.1:c.2177-8957del	ENSP00000507780.1:n.2177-8957del
ENST00000683489.1:c.2291+3144del	ENSP00000508403.1:n.2291+3144del
ENST00000683680.1:c.2318+3144del	ENSP00000507223.1:n.2318+3144del
ENST00000684163.1:c.2203+8370del	ENSP00000508262.1:n.2203+8370del
ENST00000684196.1:n.4543-8957del
ENST00000684325.1:c.2185+15344del	ENSP00000508121.1:n.2185+15344del
ENST00000684385.1:c.2220+8370del	ENSP00000507855.1:n.2220+8370del
ENST00000684497.1:c.2185+15344del	ENSP00000507057.1:n.2185+15344del
ENST00000382292.9:c.5435del MANE Select	ENSP00000371729.3:p.Thr1812LysfsTer2
ENST00000423156.2:c.2186-8957del	ENSP00000390925.2:n.2186-8957del
ENST00000455470.6:c.2431+3004del	ENSP00000406565.2:n.2431+3004del
ENST00000382292.7:c.5435del	ENSP00000371729.3:p.Thr1812LysfsTer2
ENST00000382298.7:c.5435del	ENSP00000371735.3:p.Thr1812LysfsTer2
ENST00000402364.1:c.3185del	ENSP00000385844.1:p.Thr1062LysfsTer2
ENST00000423156.1:c.1058-8957del	ENSP00000390925.1:n.1058-8957del
ENST00000455470.5:c.2129+3004del
NM_001278055.1:c.4994del	NP_001264984.1:p.Thr1665LysfsTer2
NM_014363.5:c.5435del	NP_055178.3:p.Thr1812LysfsTer2
XM_005266338.1:c.5462del	XP_005266395.1:p.Thr1821LysfsTer2
XM_011535038.1:c.5486del	XP_011533340.1:p.Thr1829LysfsTer2
XM_011535039.1:c.5453del	XP_011533341.1:p.Thr1818LysfsTer2
XM_005266338.2:c.5462del	XP_005266395.1:p.Thr1821LysfsTer2
XM_011535039.2:c.5453del	XP_011533341.1:p.Thr1818LysfsTer2
XM_017020539.1:c.5426del	XP_016876028.1:p.Thr1809LysfsTer2
XM_024449337.1:c.5462del	XP_024305105.1:p.Thr1821LysfsTer2
NM_014363.6:c.5435del MANE Select	NP_055178.3:p.Thr1812LysfsTer2
NM_001278055.2:c.4994del	NP_001264984.1:p.Thr1665LysfsTer2