Canonical Allele Identifier: CA608985261

Gene: SACS

Linked Data

• ClinVar Variation Id: 2969937
• ClinVar RCV Id: RCV003822071
• dbSNP Id: rs1214399996
• gnomAD v2: 13-23911842-G-GA
• gnomAD v4: 13-23337703-G-GA
• COSMIC: COSM1365922 ; COSM1365923
• MyVariant Identifiers: chr13:g.23911842_23911843insA (hg19) ; chr13:g.23337703_23337704insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337710dup , CM000675.2:g.23337710dup	GRCh38
NC_000013.10:g.23911849dup , CM000675.1:g.23911849dup	GRCh37
NC_000013.9:g.22809849dup	NCBI36
NG_012342.1:g.100999dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16081dup	ENSP00000508399.1:n.2185+16081dup
ENST00000682944.1:c.6199dup	ENSP00000507173.1:p.Ser2067PhefsTer2
ENST00000683210.1:c.2185+16081dup	ENSP00000506739.1:n.2185+16081dup
ENST00000683270.1:c.6163dup	ENSP00000507624.1:p.Ser2055PhefsTer2
ENST00000683367.1:c.2177-8220dup	ENSP00000507780.1:n.2177-8220dup
ENST00000683489.1:c.2291+3881dup	ENSP00000508403.1:n.2291+3881dup
ENST00000683680.1:c.2318+3881dup	ENSP00000507223.1:n.2318+3881dup
ENST00000684163.1:c.2204-8220dup	ENSP00000508262.1:n.2204-8220dup
ENST00000684196.1:n.4543-8220dup
ENST00000684325.1:c.2186-16030dup	ENSP00000508121.1:n.2186-16030dup
ENST00000684385.1:c.2221-8220dup	ENSP00000507855.1:n.2221-8220dup
ENST00000684497.1:c.2186-15060dup	ENSP00000507057.1:n.2186-15060dup
ENST00000382292.9:c.6172dup MANE Select	ENSP00000371729.3:p.Ser2058PhefsTer2
ENST00000423156.2:c.2186-8220dup	ENSP00000390925.2:n.2186-8220dup
ENST00000455470.6:c.2431+3741dup	ENSP00000406565.2:n.2431+3741dup
ENST00000382292.7:c.6172dup	ENSP00000371729.3:p.Ser2058PhefsTer2
ENST00000382298.7:c.6172dup	ENSP00000371735.3:p.Ser2058PhefsTer2
ENST00000402364.1:c.3922dup	ENSP00000385844.1:p.Ser1308PhefsTer2
ENST00000423156.1:c.1058-8220dup	ENSP00000390925.1:n.1058-8220dup
ENST00000455470.5:c.2129+3741dup
NM_001278055.1:c.5731dup	NP_001264984.1:p.Ser1911PhefsTer2
NM_014363.5:c.6172dup	NP_055178.3:p.Ser2058PhefsTer2
XM_005266338.1:c.6199dup	XP_005266395.1:p.Ser2067PhefsTer2
XM_011535038.1:c.6223dup	XP_011533340.1:p.Ser2075PhefsTer2
XM_011535039.1:c.6190dup	XP_011533341.1:p.Ser2064PhefsTer2
XM_005266338.2:c.6199dup	XP_005266395.1:p.Ser2067PhefsTer2
XM_011535039.2:c.6190dup	XP_011533341.1:p.Ser2064PhefsTer2
XM_017020539.1:c.6163dup	XP_016876028.1:p.Ser2055PhefsTer2
XM_024449337.1:c.6199dup	XP_024305105.1:p.Ser2067PhefsTer2
NM_014363.6:c.6172dup MANE Select	NP_055178.3:p.Ser2058PhefsTer2
NM_001278055.2:c.5731dup	NP_001264984.1:p.Ser1911PhefsTer2