Canonical Allele Identifier: CA608985234

Gene: SACS

Linked Data

• dbSNP Id: rs1488592225
• gnomAD v2: 13-23907837-CAG-C
• gnomAD v4: 13-23333698-CAG-C
• MyVariant Identifiers: chr13:g.23907838_23907839del (hg19) ; chr13:g.23333699_23333700del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333699_23333700del , CM000675.2:g.23333699_23333700del	GRCh38
NC_000013.10:g.23907838_23907839del , CM000675.1:g.23907838_23907839del	GRCh37
NC_000013.9:g.22805838_22805839del	NCBI36
NG_012342.1:g.105003_105004del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20085_2185+20086del	ENSP00000508399.1:n.2185+20085_2185+20086del
ENST00000682944.1:c.10203_10204del	ENSP00000507173.1:p.Asn3401LysfsTer11
ENST00000683210.1:c.2185+20085_2185+20086del	ENSP00000506739.1:n.2185+20085_2185+20086del
ENST00000683270.1:c.6445+3722_6445+3723del	ENSP00000507624.1:n.6445+3722_6445+3723del
ENST00000683367.1:c.2177-4216_2177-4215del	ENSP00000507780.1:n.2177-4216_2177-4215del
ENST00000683489.1:c.2292-3748_2292-3747del	ENSP00000508403.1:n.2292-3748_2292-3747del
ENST00000683680.1:c.2319-3748_2319-3747del	ENSP00000507223.1:n.2319-3748_2319-3747del
ENST00000684163.1:c.2204-4216_2204-4215del	ENSP00000508262.1:n.2204-4216_2204-4215del
ENST00000684196.1:n.4543-4216_4543-4215del
ENST00000684325.1:c.2186-12026_2186-12025del	ENSP00000508121.1:n.2186-12026_2186-12025del
ENST00000684385.1:c.2221-4216_2221-4215del	ENSP00000507855.1:n.2221-4216_2221-4215del
ENST00000684497.1:c.2186-11056_2186-11055del	ENSP00000507057.1:n.2186-11056_2186-11055del
ENST00000382292.9:c.10176_10177del MANE Select	ENSP00000371729.3:p.Asn3392LysfsTer11
ENST00000423156.2:c.2186-4216_2186-4215del	ENSP00000390925.2:n.2186-4216_2186-4215del
ENST00000455470.6:c.2432-4216_2432-4215del	ENSP00000406565.2:n.2432-4216_2432-4215del
ENST00000382292.7:c.10176_10177del	ENSP00000371729.3:p.Asn3392LysfsTer11
ENST00000382298.7:c.10176_10177del	ENSP00000371735.3:p.Asn3392LysfsTer11
ENST00000402364.1:c.7926_7927del	ENSP00000385844.1:p.Asn2642LysfsTer11
ENST00000423156.1:c.1058-4216_1058-4215del	ENSP00000390925.1:n.1058-4216_1058-4215del
ENST00000455470.5:c.2130-4216_2130-4215del
NM_001278055.1:c.9735_9736del	NP_001264984.1:p.Asn3245LysfsTer11
NM_014363.5:c.10176_10177del	NP_055178.3:p.Asn3392LysfsTer11
XM_005266338.1:c.10203_10204del	XP_005266395.1:p.Asn3401LysfsTer11
XM_011535038.1:c.10227_10228del	XP_011533340.1:p.Asn3409LysfsTer11
XM_011535039.1:c.10194_10195del	XP_011533341.1:p.Asn3398LysfsTer11
XM_005266338.2:c.10203_10204del	XP_005266395.1:p.Asn3401LysfsTer11
XM_011535039.2:c.10194_10195del	XP_011533341.1:p.Asn3398LysfsTer11
XM_017020539.1:c.10167_10168del	XP_016876028.1:p.Asn3389LysfsTer11
XM_024449337.1:c.10203_10204del	XP_024305105.1:p.Asn3401LysfsTer11
NM_014363.6:c.10176_10177del MANE Select	NP_055178.3:p.Asn3392LysfsTer11
NM_001278055.2:c.9735_9736del	NP_001264984.1:p.Asn3245LysfsTer11