Canonical Allele Identifier: CA2622329069

Gene: SACS

Linked Data

• gnomAD v4: 13-23340873-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340877del , CM000675.2:g.23340877del	GRCh38
NC_000013.10:g.23915016del , CM000675.1:g.23915016del	GRCh37
NC_000013.9:g.22813016del	NCBI36
NG_012342.1:g.97829del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+12911del	ENSP00000508399.1:n.2185+12911del
ENST00000682944.1:c.3029del	ENSP00000507173.1:p.Asn1010MetfsTer9
ENST00000683210.1:c.2185+12911del	ENSP00000506739.1:n.2185+12911del
ENST00000683270.1:c.2993del	ENSP00000507624.1:p.Asn998MetfsTer9
ENST00000683367.1:c.2177-11390del	ENSP00000507780.1:n.2177-11390del
ENST00000683489.1:c.2291+711del	ENSP00000508403.1:n.2291+711del
ENST00000683680.1:c.2318+711del	ENSP00000507223.1:n.2318+711del
ENST00000684163.1:c.2203+5937del	ENSP00000508262.1:n.2203+5937del
ENST00000684196.1:n.4543-11390del
ENST00000684325.1:c.2185+12911del	ENSP00000508121.1:n.2185+12911del
ENST00000684385.1:c.2220+5937del	ENSP00000507855.1:n.2220+5937del
ENST00000684497.1:c.2185+12911del	ENSP00000507057.1:n.2185+12911del
ENST00000382292.9:c.3002del MANE Select	ENSP00000371729.3:p.Asn1001MetfsTer9
ENST00000423156.2:c.2186-11390del	ENSP00000390925.2:n.2186-11390del
ENST00000455470.6:c.2431+571del	ENSP00000406565.2:n.2431+571del
ENST00000382292.7:c.3002del	ENSP00000371729.3:p.Asn1001MetfsTer9
ENST00000382298.7:c.3002del	ENSP00000371735.3:p.Asn1001MetfsTer9
ENST00000402364.1:c.752del	ENSP00000385844.1:p.Asn251MetfsTer9
ENST00000423156.1:c.1058-11390del	ENSP00000390925.1:n.1058-11390del
ENST00000455470.5:c.2129+571del
NM_001278055.1:c.2561del	NP_001264984.1:p.Asn854MetfsTer9
NM_014363.5:c.3002del	NP_055178.3:p.Asn1001MetfsTer9
XM_005266338.1:c.3029del	XP_005266395.1:p.Asn1010MetfsTer9
XM_011535038.1:c.3053del	XP_011533340.1:p.Asn1018MetfsTer9
XM_011535039.1:c.3020del	XP_011533341.1:p.Asn1007MetfsTer9
XM_005266338.2:c.3029del	XP_005266395.1:p.Asn1010MetfsTer9
XM_011535039.2:c.3020del	XP_011533341.1:p.Asn1007MetfsTer9
XM_017020539.1:c.2993del	XP_016876028.1:p.Asn998MetfsTer9
XM_024449337.1:c.3029del	XP_024305105.1:p.Asn1010MetfsTer9
NM_014363.6:c.3002del MANE Select	NP_055178.3:p.Asn1001MetfsTer9
NM_001278055.2:c.2561del	NP_001264984.1:p.Asn854MetfsTer9