Canonical Allele Identifier: CA2078630847

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339115_23339120delinsATGATT , CM000675.2:g.23339115_23339120delinsATGATT	GRCh38
NC_000013.10:g.23913254_23913259delinsATGATT , CM000675.1:g.23913254_23913259delinsATGATT	GRCh37
NC_000013.9:g.22811254_22811259delinsATGATT	NCBI36
NG_012342.1:g.99583_99588delinsAATCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+14665_2185+14670delinsAATCAT	ENSP00000508399.1:n.2185+14665_2185+14670delinsAATCAT
ENST00000682944.1:c.4783_4788delinsAATCAT	ENSP00000507173.1:p.Asn1595=
ENST00000683210.1:c.2185+14665_2185+14670delinsAATCAT	ENSP00000506739.1:n.2185+14665_2185+14670delinsAATCAT
ENST00000683270.1:c.4747_4752delinsAATCAT	ENSP00000507624.1:p.Asn1583=
ENST00000683367.1:c.2177-9636_2177-9631delinsAATCAT	ENSP00000507780.1:n.2177-9636_2177-9631delinsAATCAT
ENST00000683489.1:c.2291+2465_2291+2470delinsAATCAT	ENSP00000508403.1:n.2291+2465_2291+2470delinsAATCAT
ENST00000683680.1:c.2318+2465_2318+2470delinsAATCAT	ENSP00000507223.1:n.2318+2465_2318+2470delinsAATCAT
ENST00000684163.1:c.2203+7691_2203+7696delinsAATCAT	ENSP00000508262.1:n.2203+7691_2203+7696delinsAATCAT
ENST00000684196.1:n.4543-9636_4543-9631delinsAATCAT
ENST00000684325.1:c.2185+14665_2185+14670delinsAATCAT	ENSP00000508121.1:n.2185+14665_2185+14670delinsAATCAT
ENST00000684385.1:c.2220+7691_2220+7696delinsAATCAT	ENSP00000507855.1:n.2220+7691_2220+7696delinsAATCAT
ENST00000684497.1:c.2185+14665_2185+14670delinsAATCAT	ENSP00000507057.1:n.2185+14665_2185+14670delinsAATCAT
ENST00000382292.9:c.4756_4761delinsAATCAT MANE Select	ENSP00000371729.3:p.Asn1586=
ENST00000423156.2:c.2186-9636_2186-9631delinsAATCAT	ENSP00000390925.2:n.2186-9636_2186-9631delinsAATCAT
ENST00000455470.6:c.2431+2325_2431+2330delinsAATCAT	ENSP00000406565.2:n.2431+2325_2431+2330delinsAATCAT
ENST00000382292.7:c.4756_4761delinsAATCAT	ENSP00000371729.3:p.Asn1586=
ENST00000382298.7:c.4756_4761delinsAATCAT	ENSP00000371735.3:p.Asn1586=
ENST00000402364.1:c.2506_2511delinsAATCAT	ENSP00000385844.1:p.Asn836=
ENST00000423156.1:c.1058-9636_1058-9631delinsAATCAT	ENSP00000390925.1:n.1058-9636_1058-9631delinsAATCAT
ENST00000455470.5:c.2129+2325_2129+2330delinsAATCAT
NM_001278055.1:c.4315_4320delinsAATCAT	NP_001264984.1:p.Asn1439=
NM_014363.5:c.4756_4761delinsAATCAT	NP_055178.3:p.Asn1586=
XM_005266338.1:c.4783_4788delinsAATCAT	XP_005266395.1:p.Asn1595=
XM_011535038.1:c.4807_4812delinsAATCAT	XP_011533340.1:p.Asn1603=
XM_011535039.1:c.4774_4779delinsAATCAT	XP_011533341.1:p.Asn1592=
XM_005266338.2:c.4783_4788delinsAATCAT	XP_005266395.1:p.Asn1595=
XM_011535039.2:c.4774_4779delinsAATCAT	XP_011533341.1:p.Asn1592=
XM_017020539.1:c.4747_4752delinsAATCAT	XP_016876028.1:p.Asn1583=
XM_024449337.1:c.4783_4788delinsAATCAT	XP_024305105.1:p.Asn1595=
NM_014363.6:c.4756_4761delinsAATCAT MANE Select	NP_055178.3:p.Asn1586=
NM_001278055.2:c.4315_4320delinsAATCAT	NP_001264984.1:p.Asn1439=