Canonical Allele Identifier: CA645578245

Gene: SACS

Linked Data

• ClinVar Variation Id: 2678536
• ClinVar RCV Id: RCV003466346
• COSMIC: COSM5754056 ; COSM5754057

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334761del , CM000675.2:g.23334761del	GRCh38
NC_000013.10:g.23908900del , CM000675.1:g.23908900del	GRCh37
NC_000013.9:g.22806900del	NCBI36
NG_012342.1:g.103946del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19028del	ENSP00000508399.1:n.2185+19028del
ENST00000682944.1:c.9146del	ENSP00000507173.1:p.Asn3049MetfsTer12
ENST00000683210.1:c.2185+19028del	ENSP00000506739.1:n.2185+19028del
ENST00000683270.1:c.6445+2665del	ENSP00000507624.1:n.6445+2665del
ENST00000683367.1:c.2177-5273del	ENSP00000507780.1:n.2177-5273del
ENST00000683489.1:c.2292-4805del	ENSP00000508403.1:n.2292-4805del
ENST00000683680.1:c.2319-4805del	ENSP00000507223.1:n.2319-4805del
ENST00000684163.1:c.2204-5273del	ENSP00000508262.1:n.2204-5273del
ENST00000684196.1:n.4543-5273del
ENST00000684325.1:c.2186-13083del	ENSP00000508121.1:n.2186-13083del
ENST00000684385.1:c.2221-5273del	ENSP00000507855.1:n.2221-5273del
ENST00000684497.1:c.2186-12113del	ENSP00000507057.1:n.2186-12113del
ENST00000382292.9:c.9119del MANE Select	ENSP00000371729.3:p.Asn3040MetfsTer12
ENST00000423156.2:c.2186-5273del	ENSP00000390925.2:n.2186-5273del
ENST00000455470.6:c.2432-5273del	ENSP00000406565.2:n.2432-5273del
ENST00000382292.7:c.9119del	ENSP00000371729.3:p.Asn3040MetfsTer12
ENST00000382298.7:c.9119del	ENSP00000371735.3:p.Asn3040MetfsTer12
ENST00000402364.1:c.6869del	ENSP00000385844.1:p.Asn2290MetfsTer12
ENST00000423156.1:c.1058-5273del	ENSP00000390925.1:n.1058-5273del
ENST00000455470.5:c.2130-5273del
NM_001278055.1:c.8678del	NP_001264984.1:p.Asn2893MetfsTer12
NM_014363.5:c.9119del	NP_055178.3:p.Asn3040MetfsTer12
XM_005266338.1:c.9146del	XP_005266395.1:p.Asn3049MetfsTer12
XM_011535038.1:c.9170del	XP_011533340.1:p.Asn3057MetfsTer12
XM_011535039.1:c.9137del	XP_011533341.1:p.Asn3046MetfsTer12
XM_005266338.2:c.9146del	XP_005266395.1:p.Asn3049MetfsTer12
XM_011535039.2:c.9137del	XP_011533341.1:p.Asn3046MetfsTer12
XM_017020539.1:c.9110del	XP_016876028.1:p.Asn3037MetfsTer12
XM_024449337.1:c.9146del	XP_024305105.1:p.Asn3049MetfsTer12
NM_014363.6:c.9119del MANE Select	NP_055178.3:p.Asn3040MetfsTer12
NM_001278055.2:c.8678del	NP_001264984.1:p.Asn2893MetfsTer12