Canonical Allele Identifier: CA2622328862

Gene: SACS

Linked Data

• gnomAD v4: 13-23330852-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330853del , CM000675.2:g.23330853del	GRCh38
NC_000013.10:g.23904992del , CM000675.1:g.23904992del	GRCh37
NC_000013.9:g.22802992del	NCBI36
NG_012342.1:g.107850del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2186-18738del	ENSP00000508399.1:n.2186-18738del
ENST00000682944.1:c.13050del	ENSP00000507173.1:p.Pro4351GlnfsTer21
ENST00000683210.1:c.2185+22932del	ENSP00000506739.1:n.2185+22932del
ENST00000683270.1:c.6446-1369del	ENSP00000507624.1:n.6446-1369del
ENST00000683367.1:c.2177-1369del	ENSP00000507780.1:n.2177-1369del
ENST00000683489.1:c.2292-901del	ENSP00000508403.1:n.2292-901del
ENST00000683680.1:c.2319-901del	ENSP00000507223.1:n.2319-901del
ENST00000684163.1:c.2204-1369del	ENSP00000508262.1:n.2204-1369del
ENST00000684196.1:n.4543-1369del
ENST00000684325.1:c.2186-9179del	ENSP00000508121.1:n.2186-9179del
ENST00000684385.1:c.2221-1369del	ENSP00000507855.1:n.2221-1369del
ENST00000684497.1:c.2186-8209del	ENSP00000507057.1:n.2186-8209del
ENST00000382292.9:c.13023del MANE Select	ENSP00000371729.3:p.Pro4342GlnfsTer21
ENST00000423156.2:c.2186-1369del	ENSP00000390925.2:n.2186-1369del
ENST00000455470.6:c.2432-1369del	ENSP00000406565.2:n.2432-1369del
ENST00000382292.7:c.13023del	ENSP00000371729.3:p.Pro4342GlnfsTer21
ENST00000382298.7:c.13023del	ENSP00000371735.3:p.Pro4342GlnfsTer21
ENST00000402364.1:c.10773del	ENSP00000385844.1:p.Pro3592GlnfsTer21
ENST00000423156.1:c.1058-1369del	ENSP00000390925.1:n.1058-1369del
ENST00000455470.5:c.2130-1369del
NM_001278055.1:c.12582del	NP_001264984.1:p.Pro4195GlnfsTer21
NM_014363.5:c.13023del	NP_055178.3:p.Pro4342GlnfsTer21
XM_005266338.1:c.13050del	XP_005266395.1:p.Pro4351GlnfsTer21
XM_011535038.1:c.13074del	XP_011533340.1:p.Pro4359GlnfsTer21
XM_011535039.1:c.13041del	XP_011533341.1:p.Pro4348GlnfsTer21
XM_005266338.2:c.13050del	XP_005266395.1:p.Pro4351GlnfsTer21
XM_011535039.2:c.13041del	XP_011533341.1:p.Pro4348GlnfsTer21
XM_017020539.1:c.13014del	XP_016876028.1:p.Pro4339GlnfsTer21
XM_024449337.1:c.13050del	XP_024305105.1:p.Pro4351GlnfsTer21
NM_014363.6:c.13023del MANE Select	NP_055178.3:p.Pro4342GlnfsTer21
NM_001278055.2:c.12582del	NP_001264984.1:p.Pro4195GlnfsTer21