Canonical Allele Identifier: CA2580086869

Gene: SACS

Linked Data

• ClinVar Variation Id: 2121805
• ClinVar RCV Id: RCV003043384
• gnomAD v4: 13-23330387-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330389_23330390del , CM000675.2:g.23330389_23330390del	GRCh38
NC_000013.10:g.23904528_23904529del , CM000675.1:g.23904528_23904529del	GRCh37
NC_000013.9:g.22802528_22802529del	NCBI36
NG_012342.1:g.108314_108315del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18274_2186-18273del	ENSP00000508399.1:n.2186-18274_2186-18273del
ENST00000682944.1:c.13514_13515del	ENSP00000507173.1:p.Ser4505Ter
ENST00000683210.1:c.2185+23396_2185+23397del	ENSP00000506739.1:n.2185+23396_2185+23397del
ENST00000683270.1:c.6446-905_6446-904del	ENSP00000507624.1:n.6446-905_6446-904del
ENST00000683367.1:c.2177-905_2177-904del	ENSP00000507780.1:n.2177-905_2177-904del
ENST00000683489.1:c.2292-437_2292-436del	ENSP00000508403.1:n.2292-437_2292-436del
ENST00000683680.1:c.2319-437_2319-436del	ENSP00000507223.1:n.2319-437_2319-436del
ENST00000684163.1:c.2204-905_2204-904del	ENSP00000508262.1:n.2204-905_2204-904del
ENST00000684196.1:n.4543-905_4543-904del
ENST00000684325.1:c.2186-8715_2186-8714del	ENSP00000508121.1:n.2186-8715_2186-8714del
ENST00000684385.1:c.2221-905_2221-904del	ENSP00000507855.1:n.2221-905_2221-904del
ENST00000684497.1:c.2186-7745_2186-7744del	ENSP00000507057.1:n.2186-7745_2186-7744del
ENST00000382292.9:c.13487_13488del MANE Select	ENSP00000371729.3:p.Ser4496Ter
ENST00000423156.2:c.2186-905_2186-904del	ENSP00000390925.2:n.2186-905_2186-904del
ENST00000455470.6:c.2432-905_2432-904del	ENSP00000406565.2:n.2432-905_2432-904del
ENST00000382292.7:c.13487_13488del	ENSP00000371729.3:p.Ser4496Ter
ENST00000382298.7:c.13487_13488del	ENSP00000371735.3:p.Ser4496Ter
ENST00000402364.1:c.11237_11238del	ENSP00000385844.1:p.Ser3746Ter
ENST00000423156.1:c.1058-905_1058-904del	ENSP00000390925.1:n.1058-905_1058-904del
ENST00000455470.5:c.2130-905_2130-904del
NM_001278055.1:c.13046_13047del	NP_001264984.1:p.Ser4349Ter
NM_014363.5:c.13487_13488del	NP_055178.3:p.Ser4496Ter
XM_005266338.1:c.13514_13515del	XP_005266395.1:p.Ser4505Ter
XM_011535038.1:c.13538_13539del	XP_011533340.1:p.Ser4513Ter
XM_011535039.1:c.13505_13506del	XP_011533341.1:p.Ser4502Ter
XM_005266338.2:c.13514_13515del	XP_005266395.1:p.Ser4505Ter
XM_011535039.2:c.13505_13506del	XP_011533341.1:p.Ser4502Ter
XM_017020539.1:c.13478_13479del	XP_016876028.1:p.Ser4493Ter
XM_024449337.1:c.13514_13515del	XP_024305105.1:p.Ser4505Ter
NM_014363.6:c.13487_13488del MANE Select	NP_055178.3:p.Ser4496Ter
NM_001278055.2:c.13046_13047del	NP_001264984.1:p.Ser4349Ter