Canonical Allele Identifier: CA2526697454

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335493_23335494del , CM000675.2:g.23335493_23335494del	GRCh38
NC_000013.10:g.23909632_23909633del , CM000675.1:g.23909632_23909633del	GRCh37
NC_000013.9:g.22807632_22807633del	NCBI36
NG_012342.1:g.103209_103210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18291_2185+18292del	ENSP00000508399.1:n.2185+18291_2185+18292del
ENST00000682944.1:c.8409_8410del	ENSP00000507173.1:p.Lys2804ArgfsTer14
ENST00000683210.1:c.2185+18291_2185+18292del	ENSP00000506739.1:n.2185+18291_2185+18292del
ENST00000683270.1:c.6445+1928_6445+1929del	ENSP00000507624.1:n.6445+1928_6445+1929del
ENST00000683367.1:c.2177-6010_2177-6009del	ENSP00000507780.1:n.2177-6010_2177-6009del
ENST00000683489.1:c.2292-5542_2292-5541del	ENSP00000508403.1:n.2292-5542_2292-5541del
ENST00000683680.1:c.2319-5542_2319-5541del	ENSP00000507223.1:n.2319-5542_2319-5541del
ENST00000684163.1:c.2204-6010_2204-6009del	ENSP00000508262.1:n.2204-6010_2204-6009del
ENST00000684196.1:n.4543-6010_4543-6009del
ENST00000684325.1:c.2186-13820_2186-13819del	ENSP00000508121.1:n.2186-13820_2186-13819del
ENST00000684385.1:c.2221-6010_2221-6009del	ENSP00000507855.1:n.2221-6010_2221-6009del
ENST00000684497.1:c.2186-12850_2186-12849del	ENSP00000507057.1:n.2186-12850_2186-12849del
ENST00000382292.9:c.8382_8383del MANE Select	ENSP00000371729.3:p.Lys2795ArgfsTer14
ENST00000423156.2:c.2186-6010_2186-6009del	ENSP00000390925.2:n.2186-6010_2186-6009del
ENST00000455470.6:c.2431+5951_2431+5952del	ENSP00000406565.2:n.2431+5951_2431+5952del
ENST00000382292.7:c.8382_8383del	ENSP00000371729.3:p.Lys2795ArgfsTer14
ENST00000382298.7:c.8382_8383del	ENSP00000371735.3:p.Lys2795ArgfsTer14
ENST00000402364.1:c.6132_6133del	ENSP00000385844.1:p.Lys2045ArgfsTer14
ENST00000423156.1:c.1058-6010_1058-6009del	ENSP00000390925.1:n.1058-6010_1058-6009del
ENST00000455470.5:c.2129+5951_2129+5952del
NM_001278055.1:c.7941_7942del	NP_001264984.1:p.Lys2648ArgfsTer14
NM_014363.5:c.8382_8383del	NP_055178.3:p.Lys2795ArgfsTer14
XM_005266338.1:c.8409_8410del	XP_005266395.1:p.Lys2804ArgfsTer14
XM_011535038.1:c.8433_8434del	XP_011533340.1:p.Lys2812ArgfsTer14
XM_011535039.1:c.8400_8401del	XP_011533341.1:p.Lys2801ArgfsTer14
XM_005266338.2:c.8409_8410del	XP_005266395.1:p.Lys2804ArgfsTer14
XM_011535039.2:c.8400_8401del	XP_011533341.1:p.Lys2801ArgfsTer14
XM_017020539.1:c.8373_8374del	XP_016876028.1:p.Lys2792ArgfsTer14
XM_024449337.1:c.8409_8410del	XP_024305105.1:p.Lys2804ArgfsTer14
NM_014363.6:c.8382_8383del MANE Select	NP_055178.3:p.Lys2795ArgfsTer14
NM_001278055.2:c.7941_7942del	NP_001264984.1:p.Lys2648ArgfsTer14