Canonical Allele Identifier: CA608985353

Gene: SACS

Linked Data

• dbSNP Id: rs1353360817
• gnomAD v2: 13-23949317-TAC-T
• gnomAD v4: 13-23375178-TAC-T
• MyVariant Identifiers: chr13:g.23949318_23949319del (hg19) ; chr13:g.23375179_23375180del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23375179_23375180del , CM000675.2:g.23375179_23375180del	GRCh38
NC_000013.10:g.23949318_23949319del , CM000675.1:g.23949318_23949319del	GRCh37
NC_000013.9:g.22847318_22847319del	NCBI36
NG_012342.1:g.63523_63524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682244.1:n.683_684del
ENST00000682547.1:c.147_148del	ENSP00000507735.1:p.Tyr50SerfsTer?
ENST00000682775.1:c.110_111del	ENSP00000508399.1:p.Arg37HisfsTer23
ENST00000682944.1:c.110_111del	ENSP00000507173.1:p.Arg37HisfsTer23
ENST00000683154.1:n.248_249del
ENST00000683210.1:c.110_111del	ENSP00000506739.1:p.Arg37HisfsTer23
ENST00000683270.1:c.101_102del	ENSP00000507624.1:p.Arg34HisfsTer23
ENST00000683367.1:c.101_102del	ENSP00000507780.1:p.Arg34HisfsTer23
ENST00000683489.1:c.110_111del	ENSP00000508403.1:p.Arg37HisfsTer23
ENST00000683680.1:c.110_111del	ENSP00000507223.1:p.Arg37HisfsTer23
ENST00000684053.1:n.227_228del
ENST00000684163.1:c.101_102del	ENSP00000508262.1:p.Arg34HisfsTer23
ENST00000684325.1:c.110_111del	ENSP00000508121.1:p.Arg37HisfsTer23
ENST00000684385.1:c.110_111del	ENSP00000507855.1:p.Arg37HisfsTer23
ENST00000684497.1:c.110_111del	ENSP00000507057.1:p.Arg37HisfsTer23
ENST00000382292.9:c.110_111del MANE Select	ENSP00000371729.3:p.Arg37HisfsTer23
ENST00000423156.2:c.110_111del	ENSP00000390925.2:p.Arg37HisfsTer23
ENST00000455470.6:c.110_111del	ENSP00000406565.2:p.Arg37HisfsTer23
ENST00000382292.7:c.110_111del	ENSP00000371729.3:p.Arg37HisfsTer23
ENST00000382298.7:c.110_111del	ENSP00000371735.3:p.Arg37HisfsTer23
ENST00000402364.1:c.-2053_-2052del	ENSP00000385844.1:n.-2053_-2052del
NM_001278055.1:c.-244_-243del	NP_001264984.1:n.-244_-243del
NM_014363.5:c.110_111del	NP_055178.3:p.Arg37HisfsTer23
XM_005266338.1:c.110_111del	XP_005266395.1:p.Arg37HisfsTer23
XM_011535038.1:c.134_135del	XP_011533340.1:p.Arg45HisfsTer23
XM_011535039.1:c.101_102del	XP_011533341.1:p.Arg34HisfsTer23
XM_005266338.2:c.110_111del	XP_005266395.1:p.Arg37HisfsTer23
XM_011535039.2:c.101_102del	XP_011533341.1:p.Arg34HisfsTer23
XM_017020539.1:c.101_102del	XP_016876028.1:p.Arg34HisfsTer23
XM_024449337.1:c.110_111del	XP_024305105.1:p.Arg37HisfsTer23
NM_014363.6:c.110_111del MANE Select	NP_055178.3:p.Arg37HisfsTer23
NM_001278055.2:c.-244_-243del	NP_001264984.1:n.-244_-243del