Canonical Allele Identifier: CA2078628384

Gene: SACS

Linked Data

• dbSNP Id: rs1868811817

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337958_23337960del , CM000675.2:g.23337958_23337960del	GRCh38
NC_000013.10:g.23912097_23912099del , CM000675.1:g.23912097_23912099del	GRCh37
NC_000013.9:g.22810097_22810099del	NCBI36
NG_012342.1:g.100743_100745del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15825_2185+15827del	ENSP00000508399.1:n.2185+15825_2185+15827del
ENST00000682944.1:c.5943_5945del	ENSP00000507173.1:p.Lys1982del
ENST00000683210.1:c.2185+15825_2185+15827del	ENSP00000506739.1:n.2185+15825_2185+15827del
ENST00000683270.1:c.5907_5909del	ENSP00000507624.1:p.Lys1970del
ENST00000683367.1:c.2177-8476_2177-8474del	ENSP00000507780.1:n.2177-8476_2177-8474del
ENST00000683489.1:c.2291+3625_2291+3627del	ENSP00000508403.1:n.2291+3625_2291+3627del
ENST00000683680.1:c.2318+3625_2318+3627del	ENSP00000507223.1:n.2318+3625_2318+3627del
ENST00000684163.1:c.2204-8476_2204-8474del	ENSP00000508262.1:n.2204-8476_2204-8474del
ENST00000684196.1:n.4543-8476_4543-8474del
ENST00000684325.1:c.2185+15825_2185+15827del	ENSP00000508121.1:n.2185+15825_2185+15827del
ENST00000684385.1:c.2221-8476_2221-8474del	ENSP00000507855.1:n.2221-8476_2221-8474del
ENST00000684497.1:c.2186-15316_2186-15314del	ENSP00000507057.1:n.2186-15316_2186-15314del
ENST00000382292.9:c.5916_5918del MANE Select	ENSP00000371729.3:p.Lys1973del
ENST00000423156.2:c.2186-8476_2186-8474del	ENSP00000390925.2:n.2186-8476_2186-8474del
ENST00000455470.6:c.2431+3485_2431+3487del	ENSP00000406565.2:n.2431+3485_2431+3487del
ENST00000382292.7:c.5916_5918del	ENSP00000371729.3:p.Lys1973del
ENST00000382298.7:c.5916_5918del	ENSP00000371735.3:p.Lys1973del
ENST00000402364.1:c.3666_3668del	ENSP00000385844.1:p.Lys1223del
ENST00000423156.1:c.1058-8476_1058-8474del	ENSP00000390925.1:n.1058-8476_1058-8474del
ENST00000455470.5:c.2129+3485_2129+3487del
NM_001278055.1:c.5475_5477del	NP_001264984.1:p.Lys1826del
NM_014363.5:c.5916_5918del	NP_055178.3:p.Lys1973del
XM_005266338.1:c.5943_5945del	XP_005266395.1:p.Lys1982del
XM_011535038.1:c.5967_5969del	XP_011533340.1:p.Lys1990del
XM_011535039.1:c.5934_5936del	XP_011533341.1:p.Lys1979del
XM_005266338.2:c.5943_5945del	XP_005266395.1:p.Lys1982del
XM_011535039.2:c.5934_5936del	XP_011533341.1:p.Lys1979del
XM_017020539.1:c.5907_5909del	XP_016876028.1:p.Lys1970del
XM_024449337.1:c.5943_5945del	XP_024305105.1:p.Lys1982del
NM_014363.6:c.5916_5918del MANE Select	NP_055178.3:p.Lys1973del
NM_001278055.2:c.5475_5477del	NP_001264984.1:p.Lys1826del