Canonical Allele Identifier: CA2580086831

Gene: SACS

Linked Data

• ClinVar Variation Id: 2045949
• ClinVar RCV Id: RCV002909026

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332929del , CM000675.2:g.23332929del	GRCh38
NC_000013.10:g.23907068del , CM000675.1:g.23907068del	GRCh37
NC_000013.9:g.22805068del	NCBI36
NG_012342.1:g.105776del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-20812del	ENSP00000508399.1:n.2186-20812del
ENST00000682944.1:c.10976del	ENSP00000507173.1:p.Leu3659Ter
ENST00000683210.1:c.2185+20858del	ENSP00000506739.1:n.2185+20858del
ENST00000683270.1:c.6446-3443del	ENSP00000507624.1:n.6446-3443del
ENST00000683367.1:c.2177-3443del	ENSP00000507780.1:n.2177-3443del
ENST00000683489.1:c.2292-2975del	ENSP00000508403.1:n.2292-2975del
ENST00000683680.1:c.2319-2975del	ENSP00000507223.1:n.2319-2975del
ENST00000684163.1:c.2204-3443del	ENSP00000508262.1:n.2204-3443del
ENST00000684196.1:n.4543-3443del
ENST00000684325.1:c.2186-11253del	ENSP00000508121.1:n.2186-11253del
ENST00000684385.1:c.2221-3443del	ENSP00000507855.1:n.2221-3443del
ENST00000684497.1:c.2186-10283del	ENSP00000507057.1:n.2186-10283del
ENST00000382292.9:c.10949del MANE Select	ENSP00000371729.3:p.Leu3650Ter
ENST00000423156.2:c.2186-3443del	ENSP00000390925.2:n.2186-3443del
ENST00000455470.6:c.2432-3443del	ENSP00000406565.2:n.2432-3443del
ENST00000382292.7:c.10949del	ENSP00000371729.3:p.Leu3650Ter
ENST00000382298.7:c.10949del	ENSP00000371735.3:p.Leu3650Ter
ENST00000402364.1:c.8699del	ENSP00000385844.1:p.Leu2900Ter
ENST00000423156.1:c.1058-3443del	ENSP00000390925.1:n.1058-3443del
ENST00000455470.5:c.2130-3443del
NM_001278055.1:c.10508del	NP_001264984.1:p.Leu3503Ter
NM_014363.5:c.10949del	NP_055178.3:p.Leu3650Ter
XM_005266338.1:c.10976del	XP_005266395.1:p.Leu3659Ter
XM_011535038.1:c.11000del	XP_011533340.1:p.Leu3667Ter
XM_011535039.1:c.10967del	XP_011533341.1:p.Leu3656Ter
XM_005266338.2:c.10976del	XP_005266395.1:p.Leu3659Ter
XM_011535039.2:c.10967del	XP_011533341.1:p.Leu3656Ter
XM_017020539.1:c.10940del	XP_016876028.1:p.Leu3647Ter
XM_024449337.1:c.10976del	XP_024305105.1:p.Leu3659Ter
NM_014363.6:c.10949del MANE Select	NP_055178.3:p.Leu3650Ter
NM_001278055.2:c.10508del	NP_001264984.1:p.Leu3503Ter