Canonical Allele Identifier: CA1139663024

Gene: SACS

Linked Data

• ClinVar Variation Id: 954880
• ClinVar RCV Id: RCV001227414
• dbSNP Id: rs1883687132

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334299_23334303del , CM000675.2:g.23334299_23334303del	GRCh38
NC_000013.10:g.23908438_23908442del , CM000675.1:g.23908438_23908442del	GRCh37
NC_000013.9:g.22806438_22806442del	NCBI36
NG_012342.1:g.104403_104407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19485_2185+19489del	ENSP00000508399.1:n.2185+19485_2185+19489del
ENST00000682944.1:c.9603_9607del	ENSP00000507173.1:p.Leu3201PhefsTer4
ENST00000683210.1:c.2185+19485_2185+19489del	ENSP00000506739.1:n.2185+19485_2185+19489del
ENST00000683270.1:c.6445+3122_6445+3126del	ENSP00000507624.1:n.6445+3122_6445+3126del
ENST00000683367.1:c.2177-4816_2177-4812del	ENSP00000507780.1:n.2177-4816_2177-4812del
ENST00000683489.1:c.2292-4348_2292-4344del	ENSP00000508403.1:n.2292-4348_2292-4344del
ENST00000683680.1:c.2319-4348_2319-4344del	ENSP00000507223.1:n.2319-4348_2319-4344del
ENST00000684163.1:c.2204-4816_2204-4812del	ENSP00000508262.1:n.2204-4816_2204-4812del
ENST00000684196.1:n.4543-4816_4543-4812del
ENST00000684325.1:c.2186-12626_2186-12622del	ENSP00000508121.1:n.2186-12626_2186-12622del
ENST00000684385.1:c.2221-4816_2221-4812del	ENSP00000507855.1:n.2221-4816_2221-4812del
ENST00000684497.1:c.2186-11656_2186-11652del	ENSP00000507057.1:n.2186-11656_2186-11652del
ENST00000382292.9:c.9576_9580del MANE Select	ENSP00000371729.3:p.Leu3192PhefsTer4
ENST00000423156.2:c.2186-4816_2186-4812del	ENSP00000390925.2:n.2186-4816_2186-4812del
ENST00000455470.6:c.2432-4816_2432-4812del	ENSP00000406565.2:n.2432-4816_2432-4812del
ENST00000382292.7:c.9576_9580del	ENSP00000371729.3:p.Leu3192PhefsTer4
ENST00000382298.7:c.9576_9580del	ENSP00000371735.3:p.Leu3192PhefsTer4
ENST00000402364.1:c.7326_7330del	ENSP00000385844.1:p.Leu2442PhefsTer4
ENST00000423156.1:c.1058-4816_1058-4812del	ENSP00000390925.1:n.1058-4816_1058-4812del
ENST00000455470.5:c.2130-4816_2130-4812del
NM_001278055.1:c.9135_9139del	NP_001264984.1:p.Leu3045PhefsTer4
NM_014363.5:c.9576_9580del	NP_055178.3:p.Leu3192PhefsTer4
XM_005266338.1:c.9603_9607del	XP_005266395.1:p.Leu3201PhefsTer4
XM_011535038.1:c.9627_9631del	XP_011533340.1:p.Leu3209PhefsTer4
XM_011535039.1:c.9594_9598del	XP_011533341.1:p.Leu3198PhefsTer4
XM_005266338.2:c.9603_9607del	XP_005266395.1:p.Leu3201PhefsTer4
XM_011535039.2:c.9594_9598del	XP_011533341.1:p.Leu3198PhefsTer4
XM_017020539.1:c.9567_9571del	XP_016876028.1:p.Leu3189PhefsTer4
XM_024449337.1:c.9603_9607del	XP_024305105.1:p.Leu3201PhefsTer4
NM_014363.6:c.9576_9580del MANE Select	NP_055178.3:p.Leu3192PhefsTer4
NM_001278055.2:c.9135_9139del	NP_001264984.1:p.Leu3045PhefsTer4