Canonical Allele Identifier: CA6911575

Gene: SACS

Linked Data

• dbSNP Id: rs745432932
• ExAC: 13:23914982 CTG / C
• gnomAD v2: 13-23914982-CTG-C
• MyVariant Identifiers: chr13:g.23914983_23914984del (hg19) ; chr13:g.23340844_23340845del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340847_23340848del , CM000675.2:g.23340847_23340848del	GRCh38
NC_000013.10:g.23914986_23914987del , CM000675.1:g.23914986_23914987del	GRCh37
NC_000013.9:g.22812986_22812987del	NCBI36
NG_012342.1:g.97858_97859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+12940_2185+12941del	ENSP00000508399.1:n.2185+12940_2185+12941del
ENST00000682944.1:c.3058_3059del	ENSP00000507173.1:p.Gln1020AlafsTer7
ENST00000683210.1:c.2185+12940_2185+12941del	ENSP00000506739.1:n.2185+12940_2185+12941del
ENST00000683270.1:c.3022_3023del	ENSP00000507624.1:p.Gln1008AlafsTer7
ENST00000683367.1:c.2177-11361_2177-11360del	ENSP00000507780.1:n.2177-11361_2177-11360del
ENST00000683489.1:c.2291+740_2291+741del	ENSP00000508403.1:n.2291+740_2291+741del
ENST00000683680.1:c.2318+740_2318+741del	ENSP00000507223.1:n.2318+740_2318+741del
ENST00000684163.1:c.2203+5966_2203+5967del	ENSP00000508262.1:n.2203+5966_2203+5967del
ENST00000684196.1:n.4543-11361_4543-11360del
ENST00000684325.1:c.2185+12940_2185+12941del	ENSP00000508121.1:n.2185+12940_2185+12941del
ENST00000684385.1:c.2220+5966_2220+5967del	ENSP00000507855.1:n.2220+5966_2220+5967del
ENST00000684497.1:c.2185+12940_2185+12941del	ENSP00000507057.1:n.2185+12940_2185+12941del
ENST00000382292.9:c.3031_3032del MANE Select	ENSP00000371729.3:p.Gln1011AlafsTer7
ENST00000423156.2:c.2186-11361_2186-11360del	ENSP00000390925.2:n.2186-11361_2186-11360del
ENST00000455470.6:c.2431+600_2431+601del	ENSP00000406565.2:n.2431+600_2431+601del
ENST00000382292.7:c.3031_3032del	ENSP00000371729.3:p.Gln1011AlafsTer7
ENST00000382298.7:c.3031_3032del	ENSP00000371735.3:p.Gln1011AlafsTer7
ENST00000402364.1:c.781_782del	ENSP00000385844.1:p.Gln261AlafsTer7
ENST00000423156.1:c.1058-11361_1058-11360del	ENSP00000390925.1:n.1058-11361_1058-11360del
ENST00000455470.5:c.2129+600_2129+601del
NM_001278055.1:c.2590_2591del	NP_001264984.1:p.Gln864AlafsTer7
NM_014363.5:c.3031_3032del	NP_055178.3:p.Gln1011AlafsTer7
XM_005266338.1:c.3058_3059del	XP_005266395.1:p.Gln1020AlafsTer7
XM_011535038.1:c.3082_3083del	XP_011533340.1:p.Gln1028AlafsTer7
XM_011535039.1:c.3049_3050del	XP_011533341.1:p.Gln1017AlafsTer7
XM_005266338.2:c.3058_3059del	XP_005266395.1:p.Gln1020AlafsTer7
XM_011535039.2:c.3049_3050del	XP_011533341.1:p.Gln1017AlafsTer7
XM_017020539.1:c.3022_3023del	XP_016876028.1:p.Gln1008AlafsTer7
XM_024449337.1:c.3058_3059del	XP_024305105.1:p.Gln1020AlafsTer7
NM_014363.6:c.3031_3032del MANE Select	NP_055178.3:p.Gln1011AlafsTer7
NM_001278055.2:c.2590_2591del	NP_001264984.1:p.Gln864AlafsTer7