Canonical Allele Identifier: CA696605193

Gene: SACS

Linked Data

• dbSNP Id: rs1244180590
• MyVariant Identifiers: chr13:g.23907118_23907119del (hg19) ; chr13:g.23332979_23332980del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332983_23332984del , CM000675.2:g.23332983_23332984del	GRCh38
NC_000013.10:g.23907122_23907123del , CM000675.1:g.23907122_23907123del	GRCh37
NC_000013.9:g.22805122_22805123del	NCBI36
NG_012342.1:g.105723_105724del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+20805_2185+20806del	ENSP00000508399.1:n.2185+20805_2185+20806...
ENST00000682944.1:c.10923_10924del	ENSP00000507173.1:p.Phe3642ProfsTer24
ENST00000683210.1:c.2185+20805_2185+20806del	ENSP00000506739.1:n.2185+20805_2185+20806...
ENST00000683270.1:c.6446-3496_6446-3495del	ENSP00000507624.1:n.6446-3496_6446-3495de...
ENST00000683367.1:c.2177-3496_2177-3495del	ENSP00000507780.1:n.2177-3496_2177-3495de...
ENST00000683489.1:c.2292-3028_2292-3027del	ENSP00000508403.1:n.2292-3028_2292-3027de...
ENST00000683680.1:c.2319-3028_2319-3027del	ENSP00000507223.1:n.2319-3028_2319-3027de...
ENST00000684163.1:c.2204-3496_2204-3495del	ENSP00000508262.1:n.2204-3496_2204-3495de...
ENST00000684196.1:n.4543-3496_4543-3495del
ENST00000684325.1:c.2186-11306_2186-11305del	ENSP00000508121.1:n.2186-11306_2186-11305...
ENST00000684385.1:c.2221-3496_2221-3495del	ENSP00000507855.1:n.2221-3496_2221-3495de...
ENST00000684497.1:c.2186-10336_2186-10335del	ENSP00000507057.1:n.2186-10336_2186-10335...
ENST00000382292.9:c.10896_10897del MANE Select	ENSP00000371729.3:p.Phe3633ProfsTer24
ENST00000423156.2:c.2186-3496_2186-3495del	ENSP00000390925.2:n.2186-3496_2186-3495de...
ENST00000455470.6:c.2432-3496_2432-3495del	ENSP00000406565.2:n.2432-3496_2432-3495de...
ENST00000382292.7:c.10896_10897del	ENSP00000371729.3:p.Phe3633ProfsTer24
ENST00000382298.7:c.10896_10897del	ENSP00000371735.3:p.Phe3633ProfsTer24
ENST00000402364.1:c.8646_8647del	ENSP00000385844.1:p.Phe2883ProfsTer24
ENST00000423156.1:c.1058-3496_1058-3495del	ENSP00000390925.1:n.1058-3496_1058-3495de...
ENST00000455470.5:c.2130-3496_2130-3495del
NM_001278055.1:c.10455_10456del	NP_001264984.1:p.Phe3486ProfsTer24
NM_014363.5:c.10896_10897del	NP_055178.3:p.Phe3633ProfsTer24
XM_005266338.1:c.10923_10924del	XP_005266395.1:p.Phe3642ProfsTer24
XM_011535038.1:c.10947_10948del	XP_011533340.1:p.Phe3650ProfsTer24
XM_011535039.1:c.10914_10915del	XP_011533341.1:p.Phe3639ProfsTer24
XM_005266338.2:c.10923_10924del	XP_005266395.1:p.Phe3642ProfsTer24
XM_011535039.2:c.10914_10915del	XP_011533341.1:p.Phe3639ProfsTer24
XM_017020539.1:c.10887_10888del	XP_016876028.1:p.Phe3630ProfsTer24
XM_024449337.1:c.10923_10924del	XP_024305105.1:p.Phe3642ProfsTer24
NM_014363.6:c.10896_10897del MANE Select	NP_055178.3:p.Phe3633ProfsTer24
NM_001278055.2:c.10455_10456del	NP_001264984.1:p.Phe3486ProfsTer24