Canonical Allele Identifier: CA2575369469

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337736del , CM000675.2:g.23337736del	GRCh38
NC_000013.10:g.23911875del , CM000675.1:g.23911875del	GRCh37
NC_000013.9:g.22809875del	NCBI36
NG_012342.1:g.100968del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16050del	ENSP00000508399.1:n.2185+16050del
ENST00000682944.1:c.6168del	ENSP00000507173.1:p.Glu2057LysfsTer29
ENST00000683210.1:c.2185+16050del	ENSP00000506739.1:n.2185+16050del
ENST00000683270.1:c.6132del	ENSP00000507624.1:p.Glu2045LysfsTer29
ENST00000683367.1:c.2177-8251del	ENSP00000507780.1:n.2177-8251del
ENST00000683489.1:c.2291+3850del	ENSP00000508403.1:n.2291+3850del
ENST00000683680.1:c.2318+3850del	ENSP00000507223.1:n.2318+3850del
ENST00000684163.1:c.2204-8251del	ENSP00000508262.1:n.2204-8251del
ENST00000684196.1:n.4543-8251del
ENST00000684325.1:c.2185+16050del	ENSP00000508121.1:n.2185+16050del
ENST00000684385.1:c.2221-8251del	ENSP00000507855.1:n.2221-8251del
ENST00000684497.1:c.2186-15091del	ENSP00000507057.1:n.2186-15091del
ENST00000382292.9:c.6141del MANE Select	ENSP00000371729.3:p.Glu2048LysfsTer29
ENST00000423156.2:c.2186-8251del	ENSP00000390925.2:n.2186-8251del
ENST00000455470.6:c.2431+3710del	ENSP00000406565.2:n.2431+3710del
ENST00000382292.7:c.6141del	ENSP00000371729.3:p.Glu2048LysfsTer29
ENST00000382298.7:c.6141del	ENSP00000371735.3:p.Glu2048LysfsTer29
ENST00000402364.1:c.3891del	ENSP00000385844.1:p.Glu1298LysfsTer29
ENST00000423156.1:c.1058-8251del	ENSP00000390925.1:n.1058-8251del
ENST00000455470.5:c.2129+3710del
NM_001278055.1:c.5700del	NP_001264984.1:p.Glu1901LysfsTer29
NM_014363.5:c.6141del	NP_055178.3:p.Glu2048LysfsTer29
XM_005266338.1:c.6168del	XP_005266395.1:p.Glu2057LysfsTer29
XM_011535038.1:c.6192del	XP_011533340.1:p.Glu2065LysfsTer29
XM_011535039.1:c.6159del	XP_011533341.1:p.Glu2054LysfsTer29
XM_005266338.2:c.6168del	XP_005266395.1:p.Glu2057LysfsTer29
XM_011535039.2:c.6159del	XP_011533341.1:p.Glu2054LysfsTer29
XM_017020539.1:c.6132del	XP_016876028.1:p.Glu2045LysfsTer29
XM_024449337.1:c.6168del	XP_024305105.1:p.Glu2057LysfsTer29
NM_014363.6:c.6141del MANE Select	NP_055178.3:p.Glu2048LysfsTer29
NM_001278055.2:c.5700del	NP_001264984.1:p.Glu1901LysfsTer29