Canonical Allele Identifier: CA2078621695
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334642_23334643delinsAT , CM000675.2:g.23334642_23334643delinsAT GRCh38
NC_000013.10:g.23908781_23908782delinsAT , CM000675.1:g.23908781_23908782delinsAT GRCh37
NC_000013.9:g.22806781_22806782delinsAT NCBI36
NG_012342.1:g.104060_104061delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+19142_2185+19143delinsAT ENSP00000508399.1:n.2185+19142_2185+19143delinsAT
ENST00000682944.1:c.9260_9261delinsAT ENSP00000507173.1:p.Asn3087=
ENST00000683210.1:c.2185+19142_2185+19143delinsAT ENSP00000506739.1:n.2185+19142_2185+19143delinsAT
ENST00000683270.1:c.6445+2779_6445+2780delinsAT ENSP00000507624.1:n.6445+2779_6445+2780delinsAT
ENST00000683367.1:c.2177-5159_2177-5158delinsAT ENSP00000507780.1:n.2177-5159_2177-5158delinsAT
ENST00000683489.1:c.2292-4691_2292-4690delinsAT ENSP00000508403.1:n.2292-4691_2292-4690delinsAT
ENST00000683680.1:c.2319-4691_2319-4690delinsAT ENSP00000507223.1:n.2319-4691_2319-4690delinsAT
ENST00000684163.1:c.2204-5159_2204-5158delinsAT ENSP00000508262.1:n.2204-5159_2204-5158delinsAT
ENST00000684196.1:n.4543-5159_4543-5158delinsAT
ENST00000684325.1:c.2186-12969_2186-12968delinsAT ENSP00000508121.1:n.2186-12969_2186-12968delinsAT
ENST00000684385.1:c.2221-5159_2221-5158delinsAT ENSP00000507855.1:n.2221-5159_2221-5158delinsAT
ENST00000684497.1:c.2186-11999_2186-11998delinsAT ENSP00000507057.1:n.2186-11999_2186-11998delinsAT
ENST00000382292.9:c.9233_9234delinsAT MANE Select ENSP00000371729.3:p.Asn3078=
ENST00000423156.2:c.2186-5159_2186-5158delinsAT ENSP00000390925.2:n.2186-5159_2186-5158delinsAT
ENST00000455470.6:c.2432-5159_2432-5158delinsAT ENSP00000406565.2:n.2432-5159_2432-5158delinsAT
ENST00000382292.7:c.9233_9234delinsAT ENSP00000371729.3:p.Asn3078=
ENST00000382298.7:c.9233_9234delinsAT ENSP00000371735.3:p.Asn3078=
ENST00000402364.1:c.6983_6984delinsAT ENSP00000385844.1:p.Asn2328=
ENST00000423156.1:c.1058-5159_1058-5158delinsAT ENSP00000390925.1:n.1058-5159_1058-5158delinsAT
ENST00000455470.5:c.2130-5159_2130-5158delinsAT
NM_001278055.1:c.8792_8793delinsAT NP_001264984.1:p.Asn2931=
NM_014363.5:c.9233_9234delinsAT NP_055178.3:p.Asn3078=
XM_005266338.1:c.9260_9261delinsAT XP_005266395.1:p.Asn3087=
XM_011535038.1:c.9284_9285delinsAT XP_011533340.1:p.Asn3095=
XM_011535039.1:c.9251_9252delinsAT XP_011533341.1:p.Asn3084=
XM_005266338.2:c.9260_9261delinsAT XP_005266395.1:p.Asn3087=
XM_011535039.2:c.9251_9252delinsAT XP_011533341.1:p.Asn3084=
XM_017020539.1:c.9224_9225delinsAT XP_016876028.1:p.Asn3075=
XM_024449337.1:c.9260_9261delinsAT XP_024305105.1:p.Asn3087=
NM_014363.6:c.9233_9234delinsAT MANE Select NP_055178.3:p.Asn3078=
NM_001278055.2:c.8792_8793delinsAT NP_001264984.1:p.Asn2931=