Canonical Allele Identifier: CA2798500211

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333867_23333870del , CM000675.2:g.23333867_23333870del	GRCh38
NC_000013.10:g.23908006_23908009del , CM000675.1:g.23908006_23908009del	GRCh37
NC_000013.9:g.22806006_22806009del	NCBI36
NG_012342.1:g.104833_104836del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19915_2185+19918del	ENSP00000508399.1:n.2185+19915_2185+19918del
ENST00000682944.1:c.10033_10036del	ENSP00000507173.1:p.Lys3345SerfsTer19
ENST00000683210.1:c.2185+19915_2185+19918del	ENSP00000506739.1:n.2185+19915_2185+19918del
ENST00000683270.1:c.6445+3552_6445+3555del	ENSP00000507624.1:n.6445+3552_6445+3555del
ENST00000683367.1:c.2177-4386_2177-4383del	ENSP00000507780.1:n.2177-4386_2177-4383del
ENST00000683489.1:c.2292-3918_2292-3915del	ENSP00000508403.1:n.2292-3918_2292-3915del
ENST00000683680.1:c.2319-3918_2319-3915del	ENSP00000507223.1:n.2319-3918_2319-3915del
ENST00000684163.1:c.2204-4386_2204-4383del	ENSP00000508262.1:n.2204-4386_2204-4383del
ENST00000684196.1:n.4543-4386_4543-4383del
ENST00000684325.1:c.2186-12196_2186-12193del	ENSP00000508121.1:n.2186-12196_2186-12193del
ENST00000684385.1:c.2221-4386_2221-4383del	ENSP00000507855.1:n.2221-4386_2221-4383del
ENST00000684497.1:c.2186-11226_2186-11223del	ENSP00000507057.1:n.2186-11226_2186-11223del
ENST00000382292.9:c.10006_10009del MANE Select	ENSP00000371729.3:p.Lys3336SerfsTer19
ENST00000423156.2:c.2186-4386_2186-4383del	ENSP00000390925.2:n.2186-4386_2186-4383del
ENST00000455470.6:c.2432-4386_2432-4383del	ENSP00000406565.2:n.2432-4386_2432-4383del
ENST00000382292.7:c.10006_10009del	ENSP00000371729.3:p.Lys3336SerfsTer19
ENST00000382298.7:c.10006_10009del	ENSP00000371735.3:p.Lys3336SerfsTer19
ENST00000402364.1:c.7756_7759del	ENSP00000385844.1:p.Lys2586SerfsTer19
ENST00000423156.1:c.1058-4386_1058-4383del	ENSP00000390925.1:n.1058-4386_1058-4383del
ENST00000455470.5:c.2130-4386_2130-4383del
NM_001278055.1:c.9565_9568del	NP_001264984.1:p.Lys3189SerfsTer19
NM_014363.5:c.10006_10009del	NP_055178.3:p.Lys3336SerfsTer19
XM_005266338.1:c.10033_10036del	XP_005266395.1:p.Lys3345SerfsTer19
XM_011535038.1:c.10057_10060del	XP_011533340.1:p.Lys3353SerfsTer19
XM_011535039.1:c.10024_10027del	XP_011533341.1:p.Lys3342SerfsTer19
XM_005266338.2:c.10033_10036del	XP_005266395.1:p.Lys3345SerfsTer19
XM_011535039.2:c.10024_10027del	XP_011533341.1:p.Lys3342SerfsTer19
XM_017020539.1:c.9997_10000del	XP_016876028.1:p.Lys3333SerfsTer19
XM_024449337.1:c.10033_10036del	XP_024305105.1:p.Lys3345SerfsTer19
NM_014363.6:c.10006_10009del MANE Select	NP_055178.3:p.Lys3336SerfsTer19
NM_001278055.2:c.9565_9568del	NP_001264984.1:p.Lys3189SerfsTer19