Canonical Allele Identifier: CA2078629379

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331198_23331203delinsCTGATA , CM000675.2:g.23331198_23331203delinsCTGATA	GRCh38
NC_000013.10:g.23905337_23905342delinsCTGATA , CM000675.1:g.23905337_23905342delinsCTGATA	GRCh37
NC_000013.9:g.22803337_22803342delinsCTGATA	NCBI36
NG_012342.1:g.107500_107505delinsTATCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-19088_2186-19083delinsTATCAG	ENSP00000508399.1:n.2186-19088_2186-19083delinsTATCAG
ENST00000682944.1:c.12700_12705delinsTATCAG	ENSP00000507173.1:p.Tyr4234=
ENST00000683210.1:c.2185+22582_2185+22587delinsTATCAG	ENSP00000506739.1:n.2185+22582_2185+22587delinsTATCAG
ENST00000683270.1:c.6446-1719_6446-1714delinsTATCAG	ENSP00000507624.1:n.6446-1719_6446-1714delinsTATCAG
ENST00000683367.1:c.2177-1719_2177-1714delinsTATCAG	ENSP00000507780.1:n.2177-1719_2177-1714delinsTATCAG
ENST00000683489.1:c.2292-1251_2292-1246delinsTATCAG	ENSP00000508403.1:n.2292-1251_2292-1246delinsTATCAG
ENST00000683680.1:c.2319-1251_2319-1246delinsTATCAG	ENSP00000507223.1:n.2319-1251_2319-1246delinsTATCAG
ENST00000684163.1:c.2204-1719_2204-1714delinsTATCAG	ENSP00000508262.1:n.2204-1719_2204-1714delinsTATCAG
ENST00000684196.1:n.4543-1719_4543-1714delinsTATCAG
ENST00000684325.1:c.2186-9529_2186-9524delinsTATCAG	ENSP00000508121.1:n.2186-9529_2186-9524delinsTATCAG
ENST00000684385.1:c.2221-1719_2221-1714delinsTATCAG	ENSP00000507855.1:n.2221-1719_2221-1714delinsTATCAG
ENST00000684497.1:c.2186-8559_2186-8554delinsTATCAG	ENSP00000507057.1:n.2186-8559_2186-8554delinsTATCAG
ENST00000382292.9:c.12673_12678delinsTATCAG MANE Select	ENSP00000371729.3:p.Tyr4225=
ENST00000423156.2:c.2186-1719_2186-1714delinsTATCAG	ENSP00000390925.2:n.2186-1719_2186-1714delinsTATCAG
ENST00000455470.6:c.2432-1719_2432-1714delinsTATCAG	ENSP00000406565.2:n.2432-1719_2432-1714delinsTATCAG
ENST00000382292.7:c.12673_12678delinsTATCAG	ENSP00000371729.3:p.Tyr4225=
ENST00000382298.7:c.12673_12678delinsTATCAG	ENSP00000371735.3:p.Tyr4225=
ENST00000402364.1:c.10423_10428delinsTATCAG	ENSP00000385844.1:p.Tyr3475=
ENST00000423156.1:c.1058-1719_1058-1714delinsTATCAG	ENSP00000390925.1:n.1058-1719_1058-1714delinsTATCAG
ENST00000455470.5:c.2130-1719_2130-1714delinsTATCAG
NM_001278055.1:c.12232_12237delinsTATCAG	NP_001264984.1:p.Tyr4078=
NM_014363.5:c.12673_12678delinsTATCAG	NP_055178.3:p.Tyr4225=
XM_005266338.1:c.12700_12705delinsTATCAG	XP_005266395.1:p.Tyr4234=
XM_011535038.1:c.12724_12729delinsTATCAG	XP_011533340.1:p.Tyr4242=
XM_011535039.1:c.12691_12696delinsTATCAG	XP_011533341.1:p.Tyr4231=
XM_005266338.2:c.12700_12705delinsTATCAG	XP_005266395.1:p.Tyr4234=
XM_011535039.2:c.12691_12696delinsTATCAG	XP_011533341.1:p.Tyr4231=
XM_017020539.1:c.12664_12669delinsTATCAG	XP_016876028.1:p.Tyr4222=
XM_024449337.1:c.12700_12705delinsTATCAG	XP_024305105.1:p.Tyr4234=
NM_014363.6:c.12673_12678delinsTATCAG MANE Select	NP_055178.3:p.Tyr4225=
NM_001278055.2:c.12232_12237delinsTATCAG	NP_001264984.1:p.Tyr4078=