Canonical Allele Identifier: CA608985242

Gene: SACS

Linked Data

• ClinVar Variation Id: 1344007
• ClinVar RCV Id: RCV001847552 ; RCV001885404
• dbSNP Id: rs1435126137
• gnomAD v2: 13-23908895-A-AT
• gnomAD v4: 13-23334756-A-AT
• MyVariant Identifiers: chr13:g.23908895_23908896insT (hg19) ; chr13:g.23334756_23334757insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334761dup , CM000675.2:g.23334761dup	GRCh38
NC_000013.10:g.23908900dup , CM000675.1:g.23908900dup	GRCh37
NC_000013.9:g.22806900dup	NCBI36
NG_012342.1:g.103946dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19028dup	ENSP00000508399.1:n.2185+19028dup
ENST00000682944.1:c.9146dup	ENSP00000507173.1:p.Asn3049LysfsTer5
ENST00000683210.1:c.2185+19028dup	ENSP00000506739.1:n.2185+19028dup
ENST00000683270.1:c.6445+2665dup	ENSP00000507624.1:n.6445+2665dup
ENST00000683367.1:c.2177-5273dup	ENSP00000507780.1:n.2177-5273dup
ENST00000683489.1:c.2292-4805dup	ENSP00000508403.1:n.2292-4805dup
ENST00000683680.1:c.2319-4805dup	ENSP00000507223.1:n.2319-4805dup
ENST00000684163.1:c.2204-5273dup	ENSP00000508262.1:n.2204-5273dup
ENST00000684196.1:n.4543-5273dup
ENST00000684325.1:c.2186-13083dup	ENSP00000508121.1:n.2186-13083dup
ENST00000684385.1:c.2221-5273dup	ENSP00000507855.1:n.2221-5273dup
ENST00000684497.1:c.2186-12113dup	ENSP00000507057.1:n.2186-12113dup
ENST00000382292.9:c.9119dup MANE Select	ENSP00000371729.3:p.Asn3040LysfsTer5
ENST00000423156.2:c.2186-5273dup	ENSP00000390925.2:n.2186-5273dup
ENST00000455470.6:c.2432-5273dup	ENSP00000406565.2:n.2432-5273dup
ENST00000382292.7:c.9119dup	ENSP00000371729.3:p.Asn3040LysfsTer5
ENST00000382298.7:c.9119dup	ENSP00000371735.3:p.Asn3040LysfsTer5
ENST00000402364.1:c.6869dup	ENSP00000385844.1:p.Asn2290LysfsTer5
ENST00000423156.1:c.1058-5273dup	ENSP00000390925.1:n.1058-5273dup
ENST00000455470.5:c.2130-5273dup
NM_001278055.1:c.8678dup	NP_001264984.1:p.Asn2893LysfsTer5
NM_014363.5:c.9119dup	NP_055178.3:p.Asn3040LysfsTer5
XM_005266338.1:c.9146dup	XP_005266395.1:p.Asn3049LysfsTer5
XM_011535038.1:c.9170dup	XP_011533340.1:p.Asn3057LysfsTer5
XM_011535039.1:c.9137dup	XP_011533341.1:p.Asn3046LysfsTer5
XM_005266338.2:c.9146dup	XP_005266395.1:p.Asn3049LysfsTer5
XM_011535039.2:c.9137dup	XP_011533341.1:p.Asn3046LysfsTer5
XM_017020539.1:c.9110dup	XP_016876028.1:p.Asn3037LysfsTer5
XM_024449337.1:c.9146dup	XP_024305105.1:p.Asn3049LysfsTer5
NM_014363.6:c.9119dup MANE Select	NP_055178.3:p.Asn3040LysfsTer5
NM_001278055.2:c.8678dup	NP_001264984.1:p.Asn2893LysfsTer5