Canonical Allele Identifier: CA2540516162

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331310del , CM000675.2:g.23331310del	GRCh38
NC_000013.10:g.23905449del , CM000675.1:g.23905449del	GRCh37
NC_000013.9:g.22803449del	NCBI36
NG_012342.1:g.107394del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-19194del	ENSP00000508399.1:n.2186-19194del
ENST00000682944.1:c.12594del	ENSP00000507173.1:p.Gly4199ValfsTer?
ENST00000683210.1:c.2185+22476del	ENSP00000506739.1:n.2185+22476del
ENST00000683270.1:c.6446-1825del	ENSP00000507624.1:n.6446-1825del
ENST00000683367.1:c.2177-1825del	ENSP00000507780.1:n.2177-1825del
ENST00000683489.1:c.2292-1357del	ENSP00000508403.1:n.2292-1357del
ENST00000683680.1:c.2319-1357del	ENSP00000507223.1:n.2319-1357del
ENST00000684163.1:c.2204-1825del	ENSP00000508262.1:n.2204-1825del
ENST00000684196.1:n.4543-1825del
ENST00000684325.1:c.2186-9635del	ENSP00000508121.1:n.2186-9635del
ENST00000684385.1:c.2221-1825del	ENSP00000507855.1:n.2221-1825del
ENST00000684497.1:c.2186-8665del	ENSP00000507057.1:n.2186-8665del
ENST00000382292.9:c.12567del MANE Select	ENSP00000371729.3:p.Gly4190ValfsTer?
ENST00000423156.2:c.2186-1825del	ENSP00000390925.2:n.2186-1825del
ENST00000455470.6:c.2432-1825del	ENSP00000406565.2:n.2432-1825del
ENST00000382292.7:c.12567del	ENSP00000371729.3:p.Gly4190ValfsTer?
ENST00000382298.7:c.12567del	ENSP00000371735.3:p.Gly4190ValfsTer?
ENST00000402364.1:c.10317del	ENSP00000385844.1:p.Gly3440ValfsTer?
ENST00000423156.1:c.1058-1825del	ENSP00000390925.1:n.1058-1825del
ENST00000455470.5:c.2130-1825del
NM_001278055.1:c.12126del	NP_001264984.1:p.Gly4043ValfsTer?
NM_014363.5:c.12567del	NP_055178.3:p.Gly4190ValfsTer?
XM_005266338.1:c.12594del	XP_005266395.1:p.Gly4199ValfsTer?
XM_011535038.1:c.12618del	XP_011533340.1:p.Gly4207ValfsTer?
XM_011535039.1:c.12585del	XP_011533341.1:p.Gly4196ValfsTer?
XM_005266338.2:c.12594del	XP_005266395.1:p.Gly4199ValfsTer?
XM_011535039.2:c.12585del	XP_011533341.1:p.Gly4196ValfsTer?
XM_017020539.1:c.12558del	XP_016876028.1:p.Gly4187ValfsTer?
XM_024449337.1:c.12594del	XP_024305105.1:p.Gly4199ValfsTer?
NM_014363.6:c.12567del MANE Select	NP_055178.3:p.Gly4190ValfsTer?
NM_001278055.2:c.12126del	NP_001264984.1:p.Gly4043ValfsTer?