Canonical Allele Identifier: CA2078634162

Gene: SACS

Linked Data

• dbSNP Id: rs1883679533

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334195_23334208del , CM000675.2:g.23334195_23334208del	GRCh38
NC_000013.10:g.23908334_23908347del , CM000675.1:g.23908334_23908347del	GRCh37
NC_000013.9:g.22806334_22806347del	NCBI36
NG_012342.1:g.104495_104508del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19577_2185+19590del	ENSP00000508399.1:n.2185+19577_2185+19590del
ENST00000682944.1:c.9695_9708del	ENSP00000507173.1:p.Pro3232HisfsTer14
ENST00000683210.1:c.2185+19577_2185+19590del	ENSP00000506739.1:n.2185+19577_2185+19590del
ENST00000683270.1:c.6445+3214_6445+3227del	ENSP00000507624.1:n.6445+3214_6445+3227del
ENST00000683367.1:c.2177-4724_2177-4711del	ENSP00000507780.1:n.2177-4724_2177-4711del
ENST00000683489.1:c.2292-4256_2292-4243del	ENSP00000508403.1:n.2292-4256_2292-4243del
ENST00000683680.1:c.2319-4256_2319-4243del	ENSP00000507223.1:n.2319-4256_2319-4243del
ENST00000684163.1:c.2204-4724_2204-4711del	ENSP00000508262.1:n.2204-4724_2204-4711del
ENST00000684196.1:n.4543-4724_4543-4711del
ENST00000684325.1:c.2186-12534_2186-12521del	ENSP00000508121.1:n.2186-12534_2186-12521del
ENST00000684385.1:c.2221-4724_2221-4711del	ENSP00000507855.1:n.2221-4724_2221-4711del
ENST00000684497.1:c.2186-11564_2186-11551del	ENSP00000507057.1:n.2186-11564_2186-11551del
ENST00000382292.9:c.9668_9681del MANE Select	ENSP00000371729.3:p.Pro3223HisfsTer14
ENST00000423156.2:c.2186-4724_2186-4711del	ENSP00000390925.2:n.2186-4724_2186-4711del
ENST00000455470.6:c.2432-4724_2432-4711del	ENSP00000406565.2:n.2432-4724_2432-4711del
ENST00000382292.7:c.9668_9681del	ENSP00000371729.3:p.Pro3223HisfsTer14
ENST00000382298.7:c.9668_9681del	ENSP00000371735.3:p.Pro3223HisfsTer14
ENST00000402364.1:c.7418_7431del	ENSP00000385844.1:p.Pro2473HisfsTer14
ENST00000423156.1:c.1058-4724_1058-4711del	ENSP00000390925.1:n.1058-4724_1058-4711del
ENST00000455470.5:c.2130-4724_2130-4711del
NM_001278055.1:c.9227_9240del	NP_001264984.1:p.Pro3076HisfsTer14
NM_014363.5:c.9668_9681del	NP_055178.3:p.Pro3223HisfsTer14
XM_005266338.1:c.9695_9708del	XP_005266395.1:p.Pro3232HisfsTer14
XM_011535038.1:c.9719_9732del	XP_011533340.1:p.Pro3240HisfsTer14
XM_011535039.1:c.9686_9699del	XP_011533341.1:p.Pro3229HisfsTer14
XM_005266338.2:c.9695_9708del	XP_005266395.1:p.Pro3232HisfsTer14
XM_011535039.2:c.9686_9699del	XP_011533341.1:p.Pro3229HisfsTer14
XM_017020539.1:c.9659_9672del	XP_016876028.1:p.Pro3220HisfsTer14
XM_024449337.1:c.9695_9708del	XP_024305105.1:p.Pro3232HisfsTer14
NM_014363.6:c.9668_9681del MANE Select	NP_055178.3:p.Pro3223HisfsTer14
NM_001278055.2:c.9227_9240del	NP_001264984.1:p.Pro3076HisfsTer14