Canonical Allele Identifier: CA696605282

Gene: SACS

Linked Data

• dbSNP Id: rs1294171908
• gnomAD v3: 13-23333072-G-GT
• gnomAD v4: 13-23333072-G-GT
• MyVariant Identifiers: chr13:g.23907211_23907212insT (hg19) ; chr13:g.23333072_23333073insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333073dup , CM000675.2:g.23333073dup	GRCh38
NC_000013.10:g.23907212dup , CM000675.1:g.23907212dup	GRCh37
NC_000013.9:g.22805212dup	NCBI36
NG_012342.1:g.105630dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+20712dup	ENSP00000508399.1:n.2185+20712dup
ENST00000682944.1:c.10830dup	ENSP00000507173.1:p.Gln3611ThrfsTer4
ENST00000683210.1:c.2185+20712dup	ENSP00000506739.1:n.2185+20712dup
ENST00000683270.1:c.6446-3589dup	ENSP00000507624.1:n.6446-3589dup
ENST00000683367.1:c.2177-3589dup	ENSP00000507780.1:n.2177-3589dup
ENST00000683489.1:c.2292-3121dup	ENSP00000508403.1:n.2292-3121dup
ENST00000683680.1:c.2319-3121dup	ENSP00000507223.1:n.2319-3121dup
ENST00000684163.1:c.2204-3589dup	ENSP00000508262.1:n.2204-3589dup
ENST00000684196.1:n.4543-3589dup
ENST00000684325.1:c.2186-11399dup	ENSP00000508121.1:n.2186-11399dup
ENST00000684385.1:c.2221-3589dup	ENSP00000507855.1:n.2221-3589dup
ENST00000684497.1:c.2186-10429dup	ENSP00000507057.1:n.2186-10429dup
ENST00000382292.9:c.10803dup MANE Select	ENSP00000371729.3:p.Gln3602ThrfsTer4
ENST00000423156.2:c.2186-3589dup	ENSP00000390925.2:n.2186-3589dup
ENST00000455470.6:c.2432-3589dup	ENSP00000406565.2:n.2432-3589dup
ENST00000382292.7:c.10803dup	ENSP00000371729.3:p.Gln3602ThrfsTer4
ENST00000382298.7:c.10803dup	ENSP00000371735.3:p.Gln3602ThrfsTer4
ENST00000402364.1:c.8553dup	ENSP00000385844.1:p.Gln2852ThrfsTer4
ENST00000423156.1:c.1058-3589dup	ENSP00000390925.1:n.1058-3589dup
ENST00000455470.5:c.2130-3589dup
NM_001278055.1:c.10362dup	NP_001264984.1:p.Gln3455ThrfsTer4
NM_014363.5:c.10803dup	NP_055178.3:p.Gln3602ThrfsTer4
XM_005266338.1:c.10830dup	XP_005266395.1:p.Gln3611ThrfsTer4
XM_011535038.1:c.10854dup	XP_011533340.1:p.Gln3619ThrfsTer4
XM_011535039.1:c.10821dup	XP_011533341.1:p.Gln3608ThrfsTer4
XM_005266338.2:c.10830dup	XP_005266395.1:p.Gln3611ThrfsTer4
XM_011535039.2:c.10821dup	XP_011533341.1:p.Gln3608ThrfsTer4
XM_017020539.1:c.10794dup	XP_016876028.1:p.Gln3599ThrfsTer4
XM_024449337.1:c.10830dup	XP_024305105.1:p.Gln3611ThrfsTer4
NM_014363.6:c.10803dup MANE Select	NP_055178.3:p.Gln3602ThrfsTer4
NM_001278055.2:c.10362dup	NP_001264984.1:p.Gln3455ThrfsTer4