Canonical Allele Identifier: CA2078640383

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339404_23339411delinsGTTGCATT , CM000675.2:g.23339404_23339411delinsGTTGCATT	GRCh38
NC_000013.10:g.23913543_23913550delinsGTTGCATT , CM000675.1:g.23913543_23913550delinsGTTGCATT	GRCh37
NC_000013.9:g.22811543_22811550delinsGTTGCATT	NCBI36
NG_012342.1:g.99292_99299delinsAATGCAAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+14374_2185+14381delinsAATGCAAC	ENSP00000508399.1:n.2185+14374_2185+14381...
ENST00000682944.1:c.4492_4499delinsAATGCAAC	ENSP00000507173.1:p.Asn1498=
ENST00000683210.1:c.2185+14374_2185+14381delinsAATGCAAC	ENSP00000506739.1:n.2185+14374_2185+14381...
ENST00000683270.1:c.4456_4463delinsAATGCAAC	ENSP00000507624.1:p.Asn1486=
ENST00000683367.1:c.2177-9927_2177-9920delinsAATGCAAC	ENSP00000507780.1:n.2177-9927_2177-9920de...
ENST00000683489.1:c.2291+2174_2291+2181delinsAATGCAAC	ENSP00000508403.1:n.2291+2174_2291+2181de...
ENST00000683680.1:c.2318+2174_2318+2181delinsAATGCAAC	ENSP00000507223.1:n.2318+2174_2318+2181de...
ENST00000684163.1:c.2203+7400_2203+7407delinsAATGCAAC	ENSP00000508262.1:n.2203+7400_2203+7407de...
ENST00000684196.1:n.4543-9927_4543-9920delinsAATGCAAC
ENST00000684325.1:c.2185+14374_2185+14381delinsAATGCAAC	ENSP00000508121.1:n.2185+14374_2185+14381...
ENST00000684385.1:c.2220+7400_2220+7407delinsAATGCAAC	ENSP00000507855.1:n.2220+7400_2220+7407de...
ENST00000684497.1:c.2185+14374_2185+14381delinsAATGCAAC	ENSP00000507057.1:n.2185+14374_2185+14381...
ENST00000382292.9:c.4465_4472delinsAATGCAAC MANE Select	ENSP00000371729.3:p.Asn1489=
ENST00000423156.2:c.2186-9927_2186-9920delinsAATGCAAC	ENSP00000390925.2:n.2186-9927_2186-9920de...
ENST00000455470.6:c.2431+2034_2431+2041delinsAATGCAAC	ENSP00000406565.2:n.2431+2034_2431+2041de...
ENST00000382292.7:c.4465_4472delinsAATGCAAC	ENSP00000371729.3:p.Asn1489=
ENST00000382298.7:c.4465_4472delinsAATGCAAC	ENSP00000371735.3:p.Asn1489=
ENST00000402364.1:c.2215_2222delinsAATGCAAC	ENSP00000385844.1:p.Asn739=
ENST00000423156.1:c.1058-9927_1058-9920delinsAATGCAAC	ENSP00000390925.1:n.1058-9927_1058-9920de...
ENST00000455470.5:c.2129+2034_2129+2041delinsAATGCAAC
NM_001278055.1:c.4024_4031delinsAATGCAAC	NP_001264984.1:p.Asn1342=
NM_014363.5:c.4465_4472delinsAATGCAAC	NP_055178.3:p.Asn1489=
XM_005266338.1:c.4492_4499delinsAATGCAAC	XP_005266395.1:p.Asn1498=
XM_011535038.1:c.4516_4523delinsAATGCAAC	XP_011533340.1:p.Asn1506=
XM_011535039.1:c.4483_4490delinsAATGCAAC	XP_011533341.1:p.Asn1495=
XM_005266338.2:c.4492_4499delinsAATGCAAC	XP_005266395.1:p.Asn1498=
XM_011535039.2:c.4483_4490delinsAATGCAAC	XP_011533341.1:p.Asn1495=
XM_017020539.1:c.4456_4463delinsAATGCAAC	XP_016876028.1:p.Asn1486=
XM_024449337.1:c.4492_4499delinsAATGCAAC	XP_024305105.1:p.Asn1498=
NM_014363.6:c.4465_4472delinsAATGCAAC MANE Select	NP_055178.3:p.Asn1489=
NM_001278055.2:c.4024_4031delinsAATGCAAC	NP_001264984.1:p.Asn1342=