Canonical Allele Identifier: CA608985209

Gene: SACS

Linked Data

• dbSNP Id: rs1566054751
• gnomAD v2: 13-23904749-A-AG
• MyVariant Identifiers: chr13:g.23904749_23904750insG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330616dup , CM000675.2:g.23330616dup	GRCh38
NC_000013.10:g.23904755dup , CM000675.1:g.23904755dup	GRCh37
NC_000013.9:g.22802755dup	NCBI36
NG_012342.1:g.108092dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18496dup	ENSP00000508399.1:n.2186-18496dup
ENST00000682944.1:c.13292dup	ENSP00000507173.1:p.Ser4432PhefsTer?
ENST00000683210.1:c.2185+23174dup	ENSP00000506739.1:n.2185+23174dup
ENST00000683270.1:c.6446-1127dup	ENSP00000507624.1:n.6446-1127dup
ENST00000683367.1:c.2177-1127dup	ENSP00000507780.1:n.2177-1127dup
ENST00000683489.1:c.2292-659dup	ENSP00000508403.1:n.2292-659dup
ENST00000683680.1:c.2319-659dup	ENSP00000507223.1:n.2319-659dup
ENST00000684163.1:c.2204-1127dup	ENSP00000508262.1:n.2204-1127dup
ENST00000684196.1:n.4543-1127dup
ENST00000684325.1:c.2186-8937dup	ENSP00000508121.1:n.2186-8937dup
ENST00000684385.1:c.2221-1127dup	ENSP00000507855.1:n.2221-1127dup
ENST00000684497.1:c.2186-7967dup	ENSP00000507057.1:n.2186-7967dup
ENST00000382292.9:c.13265dup MANE Select	ENSP00000371729.3:p.Ser4423PhefsTer?
ENST00000423156.2:c.2186-1127dup	ENSP00000390925.2:n.2186-1127dup
ENST00000455470.6:c.2432-1127dup	ENSP00000406565.2:n.2432-1127dup
ENST00000382292.7:c.13265dup	ENSP00000371729.3:p.Ser4423PhefsTer?
ENST00000382298.7:c.13265dup	ENSP00000371735.3:p.Ser4423PhefsTer?
ENST00000402364.1:c.11015dup	ENSP00000385844.1:p.Ser3673PhefsTer?
ENST00000423156.1:c.1058-1127dup	ENSP00000390925.1:n.1058-1127dup
ENST00000455470.5:c.2130-1127dup
NM_001278055.1:c.12824dup	NP_001264984.1:p.Ser4276PhefsTer?
NM_014363.5:c.13265dup	NP_055178.3:p.Ser4423PhefsTer?
XM_005266338.1:c.13292dup	XP_005266395.1:p.Ser4432PhefsTer?
XM_011535038.1:c.13316dup	XP_011533340.1:p.Ser4440PhefsTer?
XM_011535039.1:c.13283dup	XP_011533341.1:p.Ser4429PhefsTer?
XM_005266338.2:c.13292dup	XP_005266395.1:p.Ser4432PhefsTer?
XM_011535039.2:c.13283dup	XP_011533341.1:p.Ser4429PhefsTer?
XM_017020539.1:c.13256dup	XP_016876028.1:p.Ser4420PhefsTer?
XM_024449337.1:c.13292dup	XP_024305105.1:p.Ser4432PhefsTer?
NM_014363.6:c.13265dup MANE Select	NP_055178.3:p.Ser4423PhefsTer?
NM_001278055.2:c.12824dup	NP_001264984.1:p.Ser4276PhefsTer?