Canonical Allele Identifier: CA658823477

Gene: SACS

Linked Data

• ClinVar Variation Id: 555098
• ClinVar RCV Id: RCV000670846
• dbSNP Id: rs1555250557
• gnomAD v4: 13-23334247-TCAAA-T
• MyVariant Identifiers: chr13:g.23334248_23334251del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334250_23334253del , CM000675.2:g.23334250_23334253del	GRCh38
NC_000013.10:g.23908389_23908392del , CM000675.1:g.23908389_23908392del	GRCh37
NC_000013.9:g.22806389_22806392del	NCBI36
NG_012342.1:g.104452_104455del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+19534_2185+19537del	ENSP00000508399.1:n.2185+19534_2185+19537...
ENST00000682944.1:c.9652_9655del	ENSP00000507173.1:p.Phe3218ThrfsTer?
ENST00000683210.1:c.2185+19534_2185+19537del	ENSP00000506739.1:n.2185+19534_2185+19537...
ENST00000683270.1:c.6445+3171_6445+3174del	ENSP00000507624.1:n.6445+3171_6445+3174de...
ENST00000683367.1:c.2177-4767_2177-4764del	ENSP00000507780.1:n.2177-4767_2177-4764de...
ENST00000683489.1:c.2292-4299_2292-4296del	ENSP00000508403.1:n.2292-4299_2292-4296de...
ENST00000683680.1:c.2319-4299_2319-4296del	ENSP00000507223.1:n.2319-4299_2319-4296de...
ENST00000684163.1:c.2204-4767_2204-4764del	ENSP00000508262.1:n.2204-4767_2204-4764de...
ENST00000684196.1:n.4543-4767_4543-4764del
ENST00000684325.1:c.2186-12577_2186-12574del	ENSP00000508121.1:n.2186-12577_2186-12574...
ENST00000684385.1:c.2221-4767_2221-4764del	ENSP00000507855.1:n.2221-4767_2221-4764de...
ENST00000684497.1:c.2186-11607_2186-11604del	ENSP00000507057.1:n.2186-11607_2186-11604...
ENST00000382292.9:c.9625_9628del MANE Select	ENSP00000371729.3:p.Phe3209ThrfsTer?
ENST00000423156.2:c.2186-4767_2186-4764del	ENSP00000390925.2:n.2186-4767_2186-4764de...
ENST00000455470.6:c.2432-4767_2432-4764del	ENSP00000406565.2:n.2432-4767_2432-4764de...
ENST00000382292.7:c.9625_9628del	ENSP00000371729.3:p.Phe3209ThrfsTer?
ENST00000382298.7:c.9625_9628del	ENSP00000371735.3:p.Phe3209ThrfsTer?
ENST00000402364.1:c.7375_7378del	ENSP00000385844.1:p.Phe2459ThrfsTer?
ENST00000423156.1:c.1058-4767_1058-4764del	ENSP00000390925.1:n.1058-4767_1058-4764de...
ENST00000455470.5:c.2130-4767_2130-4764del
NM_001278055.1:c.9184_9187del	NP_001264984.1:p.Phe3062ThrfsTer?
NM_014363.5:c.9625_9628del	NP_055178.3:p.Phe3209ThrfsTer?
XM_005266338.1:c.9652_9655del	XP_005266395.1:p.Phe3218ThrfsTer?
XM_011535038.1:c.9676_9679del	XP_011533340.1:p.Phe3226ThrfsTer?
XM_011535039.1:c.9643_9646del	XP_011533341.1:p.Phe3215ThrfsTer?
XM_005266338.2:c.9652_9655del	XP_005266395.1:p.Phe3218ThrfsTer?
XM_011535039.2:c.9643_9646del	XP_011533341.1:p.Phe3215ThrfsTer?
XM_017020539.1:c.9616_9619del	XP_016876028.1:p.Phe3206ThrfsTer?
XM_024449337.1:c.9652_9655del	XP_024305105.1:p.Phe3218ThrfsTer?
NM_014363.6:c.9625_9628del MANE Select	NP_055178.3:p.Phe3209ThrfsTer?
NM_001278055.2:c.9184_9187del	NP_001264984.1:p.Phe3062ThrfsTer?