Canonical Allele Identifier: CA608985243

Gene: SACS

Linked Data

• dbSNP Id: rs1224483796
• gnomAD v2: 13-23908923-A-AT
• gnomAD v4: 13-23334784-A-AT
• MyVariant Identifiers: chr13:g.23908923_23908924insT (hg19) ; chr13:g.23334784_23334785insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334784_23334785insT , CM000675.2:g.23334784_23334785insT	GRCh38
NC_000013.10:g.23908923_23908924insT , CM000675.1:g.23908923_23908924insT	GRCh37
NC_000013.9:g.22806923_22806924insT	NCBI36
NG_012342.1:g.103918_103919insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19000_2185+19001insA	ENSP00000508399.1:n.2185+19000_2185+19001insA
ENST00000682944.1:c.9118_9119insA	ENSP00000507173.1:p.Leu3040HisfsTer4
ENST00000683210.1:c.2185+19000_2185+19001insA	ENSP00000506739.1:n.2185+19000_2185+19001insA
ENST00000683270.1:c.6445+2637_6445+2638insA	ENSP00000507624.1:n.6445+2637_6445+2638insA
ENST00000683367.1:c.2177-5301_2177-5300insA	ENSP00000507780.1:n.2177-5301_2177-5300insA
ENST00000683489.1:c.2292-4833_2292-4832insA	ENSP00000508403.1:n.2292-4833_2292-4832insA
ENST00000683680.1:c.2319-4833_2319-4832insA	ENSP00000507223.1:n.2319-4833_2319-4832insA
ENST00000684163.1:c.2204-5301_2204-5300insA	ENSP00000508262.1:n.2204-5301_2204-5300insA
ENST00000684196.1:n.4543-5301_4543-5300insA
ENST00000684325.1:c.2186-13111_2186-13110insA	ENSP00000508121.1:n.2186-13111_2186-13110insA
ENST00000684385.1:c.2221-5301_2221-5300insA	ENSP00000507855.1:n.2221-5301_2221-5300insA
ENST00000684497.1:c.2186-12141_2186-12140insA	ENSP00000507057.1:n.2186-12141_2186-12140insA
ENST00000382292.9:c.9091_9092insA MANE Select	ENSP00000371729.3:p.Leu3031HisfsTer4
ENST00000423156.2:c.2186-5301_2186-5300insA	ENSP00000390925.2:n.2186-5301_2186-5300insA
ENST00000455470.6:c.2432-5301_2432-5300insA	ENSP00000406565.2:n.2432-5301_2432-5300insA
ENST00000382292.7:c.9091_9092insA	ENSP00000371729.3:p.Leu3031HisfsTer4
ENST00000382298.7:c.9091_9092insA	ENSP00000371735.3:p.Leu3031HisfsTer4
ENST00000402364.1:c.6841_6842insA	ENSP00000385844.1:p.Leu2281HisfsTer4
ENST00000423156.1:c.1058-5301_1058-5300insA	ENSP00000390925.1:n.1058-5301_1058-5300insA
ENST00000455470.5:c.2130-5301_2130-5300insA
NM_001278055.1:c.8650_8651insA	NP_001264984.1:p.Leu2884HisfsTer4
NM_014363.5:c.9091_9092insA	NP_055178.3:p.Leu3031HisfsTer4
XM_005266338.1:c.9118_9119insA	XP_005266395.1:p.Leu3040HisfsTer4
XM_011535038.1:c.9142_9143insA	XP_011533340.1:p.Leu3048HisfsTer4
XM_011535039.1:c.9109_9110insA	XP_011533341.1:p.Leu3037HisfsTer4
XM_005266338.2:c.9118_9119insA	XP_005266395.1:p.Leu3040HisfsTer4
XM_011535039.2:c.9109_9110insA	XP_011533341.1:p.Leu3037HisfsTer4
XM_017020539.1:c.9082_9083insA	XP_016876028.1:p.Leu3028HisfsTer4
XM_024449337.1:c.9118_9119insA	XP_024305105.1:p.Leu3040HisfsTer4
NM_014363.6:c.9091_9092insA MANE Select	NP_055178.3:p.Leu3031HisfsTer4
NM_001278055.2:c.8650_8651insA	NP_001264984.1:p.Leu2884HisfsTer4