Canonical Allele Identifier: CA658823505

Gene: SACS

Linked Data

• ClinVar Variation Id: 551718
• ClinVar RCV Id: RCV000666850
• dbSNP Id: rs1555251416
• MyVariant Identifiers: chr13:g.23336420_23336428del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336420_23336428del , CM000675.2:g.23336420_23336428del	GRCh38
NC_000013.10:g.23910559_23910567del , CM000675.1:g.23910559_23910567del	GRCh37
NC_000013.9:g.22808559_22808567del	NCBI36
NG_012342.1:g.102275_102283del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17357_2185+17365del	ENSP00000508399.1:n.2185+17357_2185+17365del
ENST00000682944.1:c.7475_7483del	ENSP00000507173.1:p.Tyr2492_Ala2495delinsSer
ENST00000683210.1:c.2185+17357_2185+17365del	ENSP00000506739.1:n.2185+17357_2185+17365del
ENST00000683270.1:c.6445+994_6445+1002del	ENSP00000507624.1:n.6445+994_6445+1002del
ENST00000683367.1:c.2177-6944_2177-6936del	ENSP00000507780.1:n.2177-6944_2177-6936del
ENST00000683489.1:c.2291+5157_2291+5165del	ENSP00000508403.1:n.2291+5157_2291+5165del
ENST00000683680.1:c.2318+5157_2318+5165del	ENSP00000507223.1:n.2318+5157_2318+5165del
ENST00000684163.1:c.2204-6944_2204-6936del	ENSP00000508262.1:n.2204-6944_2204-6936del
ENST00000684196.1:n.4543-6944_4543-6936del
ENST00000684325.1:c.2186-14754_2186-14746del	ENSP00000508121.1:n.2186-14754_2186-14746del
ENST00000684385.1:c.2221-6944_2221-6936del	ENSP00000507855.1:n.2221-6944_2221-6936del
ENST00000684497.1:c.2186-13784_2186-13776del	ENSP00000507057.1:n.2186-13784_2186-13776del
ENST00000382292.9:c.7448_7456del MANE Select	ENSP00000371729.3:p.Tyr2483_Ala2486delinsSer
ENST00000423156.2:c.2186-6944_2186-6936del	ENSP00000390925.2:n.2186-6944_2186-6936del
ENST00000455470.6:c.2431+5017_2431+5025del	ENSP00000406565.2:n.2431+5017_2431+5025del
ENST00000382292.7:c.7448_7456del	ENSP00000371729.3:p.Tyr2483_Ala2486delinsSer
ENST00000382298.7:c.7448_7456del	ENSP00000371735.3:p.Tyr2483_Ala2486delinsSer
ENST00000402364.1:c.5198_5206del	ENSP00000385844.1:p.Tyr1733_Ala1736delinsSer
ENST00000423156.1:c.1058-6944_1058-6936del	ENSP00000390925.1:n.1058-6944_1058-6936del
ENST00000455470.5:c.2129+5017_2129+5025del
NM_001278055.1:c.7007_7015del	NP_001264984.1:p.Tyr2336_Ala2339delinsSer
NM_014363.5:c.7448_7456del	NP_055178.3:p.Tyr2483_Ala2486delinsSer
XM_005266338.1:c.7475_7483del	XP_005266395.1:p.Tyr2492_Ala2495delinsSer
XM_011535038.1:c.7499_7507del	XP_011533340.1:p.Tyr2500_Ala2503delinsSer
XM_011535039.1:c.7466_7474del	XP_011533341.1:p.Tyr2489_Ala2492delinsSer
XM_005266338.2:c.7475_7483del	XP_005266395.1:p.Tyr2492_Ala2495delinsSer
XM_011535039.2:c.7466_7474del	XP_011533341.1:p.Tyr2489_Ala2492delinsSer
XM_017020539.1:c.7439_7447del	XP_016876028.1:p.Tyr2480_Ala2483delinsSer
XM_024449337.1:c.7475_7483del	XP_024305105.1:p.Tyr2492_Ala2495delinsSer
NM_014363.6:c.7448_7456del MANE Select	NP_055178.3:p.Tyr2483_Ala2486delinsSer
NM_001278055.2:c.7007_7015del	NP_001264984.1:p.Tyr2336_Ala2339delinsSer