Canonical Allele Identifier: CA2078628364

Gene: SACS

Linked Data

• dbSNP Id: rs1868811344

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337957_23337960del , CM000675.2:g.23337957_23337960del	GRCh38
NC_000013.10:g.23912096_23912099del , CM000675.1:g.23912096_23912099del	GRCh37
NC_000013.9:g.22810096_22810099del	NCBI36
NG_012342.1:g.100746_100749del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15828_2185+15831del	ENSP00000508399.1:n.2185+15828_2185+15831del
ENST00000682944.1:c.5946_5949del	ENSP00000507173.1:p.Lys1982AsnfsTer2
ENST00000683210.1:c.2185+15828_2185+15831del	ENSP00000506739.1:n.2185+15828_2185+15831del
ENST00000683270.1:c.5910_5913del	ENSP00000507624.1:p.Lys1970AsnfsTer2
ENST00000683367.1:c.2177-8473_2177-8470del	ENSP00000507780.1:n.2177-8473_2177-8470del
ENST00000683489.1:c.2291+3628_2291+3631del	ENSP00000508403.1:n.2291+3628_2291+3631del
ENST00000683680.1:c.2318+3628_2318+3631del	ENSP00000507223.1:n.2318+3628_2318+3631del
ENST00000684163.1:c.2204-8473_2204-8470del	ENSP00000508262.1:n.2204-8473_2204-8470del
ENST00000684196.1:n.4543-8473_4543-8470del
ENST00000684325.1:c.2185+15828_2185+15831del	ENSP00000508121.1:n.2185+15828_2185+15831del
ENST00000684385.1:c.2221-8473_2221-8470del	ENSP00000507855.1:n.2221-8473_2221-8470del
ENST00000684497.1:c.2186-15313_2186-15310del	ENSP00000507057.1:n.2186-15313_2186-15310del
ENST00000382292.9:c.5919_5922del MANE Select	ENSP00000371729.3:p.Lys1973AsnfsTer2
ENST00000423156.2:c.2186-8473_2186-8470del	ENSP00000390925.2:n.2186-8473_2186-8470del
ENST00000455470.6:c.2431+3488_2431+3491del	ENSP00000406565.2:n.2431+3488_2431+3491del
ENST00000382292.7:c.5919_5922del	ENSP00000371729.3:p.Lys1973AsnfsTer2
ENST00000382298.7:c.5919_5922del	ENSP00000371735.3:p.Lys1973AsnfsTer2
ENST00000402364.1:c.3669_3672del	ENSP00000385844.1:p.Lys1223AsnfsTer2
ENST00000423156.1:c.1058-8473_1058-8470del	ENSP00000390925.1:n.1058-8473_1058-8470del
ENST00000455470.5:c.2129+3488_2129+3491del
NM_001278055.1:c.5478_5481del	NP_001264984.1:p.Lys1826AsnfsTer2
NM_014363.5:c.5919_5922del	NP_055178.3:p.Lys1973AsnfsTer2
XM_005266338.1:c.5946_5949del	XP_005266395.1:p.Lys1982AsnfsTer2
XM_011535038.1:c.5970_5973del	XP_011533340.1:p.Lys1990AsnfsTer2
XM_011535039.1:c.5937_5940del	XP_011533341.1:p.Lys1979AsnfsTer2
XM_005266338.2:c.5946_5949del	XP_005266395.1:p.Lys1982AsnfsTer2
XM_011535039.2:c.5937_5940del	XP_011533341.1:p.Lys1979AsnfsTer2
XM_017020539.1:c.5910_5913del	XP_016876028.1:p.Lys1970AsnfsTer2
XM_024449337.1:c.5946_5949del	XP_024305105.1:p.Lys1982AsnfsTer2
NM_014363.6:c.5919_5922del MANE Select	NP_055178.3:p.Lys1973AsnfsTer2
NM_001278055.2:c.5478_5481del	NP_001264984.1:p.Lys1826AsnfsTer2