Canonical Allele Identifier: CA696607936

Gene: SACS

Linked Data

• ClinVar Variation Id: 2584738
• ClinVar RCV Id: RCV003336691
• dbSNP Id: rs1345151578
• gnomAD v4: 13-23334600-ATAAC-A
• MyVariant Identifiers: chr13:g.23908740_23908743del (hg19) ; chr13:g.23334601_23334604del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334605_23334608del , CM000675.2:g.23334605_23334608del	GRCh38
NC_000013.10:g.23908744_23908747del , CM000675.1:g.23908744_23908747del	GRCh37
NC_000013.9:g.22806744_22806747del	NCBI36
NG_012342.1:g.104099_104102del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+19181_2185+19184del	ENSP00000508399.1:n.2185+19181_2185+19184...
ENST00000682944.1:c.9299_9302del	ENSP00000507173.1:p.Ser3100MetfsTer2
ENST00000683210.1:c.2185+19181_2185+19184del	ENSP00000506739.1:n.2185+19181_2185+19184...
ENST00000683270.1:c.6445+2818_6445+2821del	ENSP00000507624.1:n.6445+2818_6445+2821de...
ENST00000683367.1:c.2177-5120_2177-5117del	ENSP00000507780.1:n.2177-5120_2177-5117de...
ENST00000683489.1:c.2292-4652_2292-4649del	ENSP00000508403.1:n.2292-4652_2292-4649de...
ENST00000683680.1:c.2319-4652_2319-4649del	ENSP00000507223.1:n.2319-4652_2319-4649de...
ENST00000684163.1:c.2204-5120_2204-5117del	ENSP00000508262.1:n.2204-5120_2204-5117de...
ENST00000684196.1:n.4543-5120_4543-5117del
ENST00000684325.1:c.2186-12930_2186-12927del	ENSP00000508121.1:n.2186-12930_2186-12927...
ENST00000684385.1:c.2221-5120_2221-5117del	ENSP00000507855.1:n.2221-5120_2221-5117de...
ENST00000684497.1:c.2186-11960_2186-11957del	ENSP00000507057.1:n.2186-11960_2186-11957...
ENST00000382292.9:c.9272_9275del MANE Select	ENSP00000371729.3:p.Ser3091MetfsTer2
ENST00000423156.2:c.2186-5120_2186-5117del	ENSP00000390925.2:n.2186-5120_2186-5117de...
ENST00000455470.6:c.2432-5120_2432-5117del	ENSP00000406565.2:n.2432-5120_2432-5117de...
ENST00000382292.7:c.9272_9275del	ENSP00000371729.3:p.Ser3091MetfsTer2
ENST00000382298.7:c.9272_9275del	ENSP00000371735.3:p.Ser3091MetfsTer2
ENST00000402364.1:c.7022_7025del	ENSP00000385844.1:p.Ser2341MetfsTer2
ENST00000423156.1:c.1058-5120_1058-5117del	ENSP00000390925.1:n.1058-5120_1058-5117de...
ENST00000455470.5:c.2130-5120_2130-5117del
NM_001278055.1:c.8831_8834del	NP_001264984.1:p.Ser2944MetfsTer2
NM_014363.5:c.9272_9275del	NP_055178.3:p.Ser3091MetfsTer2
XM_005266338.1:c.9299_9302del	XP_005266395.1:p.Ser3100MetfsTer2
XM_011535038.1:c.9323_9326del	XP_011533340.1:p.Ser3108MetfsTer2
XM_011535039.1:c.9290_9293del	XP_011533341.1:p.Ser3097MetfsTer2
XM_005266338.2:c.9299_9302del	XP_005266395.1:p.Ser3100MetfsTer2
XM_011535039.2:c.9290_9293del	XP_011533341.1:p.Ser3097MetfsTer2
XM_017020539.1:c.9263_9266del	XP_016876028.1:p.Ser3088MetfsTer2
XM_024449337.1:c.9299_9302del	XP_024305105.1:p.Ser3100MetfsTer2
NM_014363.6:c.9272_9275del MANE Select	NP_055178.3:p.Ser3091MetfsTer2
NM_001278055.2:c.8831_8834del	NP_001264984.1:p.Ser2944MetfsTer2