Canonical Allele Identifier: CA2078633888
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334003_23334004delinsGT , CM000675.2:g.23334003_23334004delinsGT GRCh38
NC_000013.10:g.23908142_23908143delinsGT , CM000675.1:g.23908142_23908143delinsGT GRCh37
NC_000013.9:g.22806142_22806143delinsGT NCBI36
NG_012342.1:g.104699_104700delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+19781_2185+19782delinsAC ENSP00000508399.1:n.2185+19781_2185+19782delinsAC
ENST00000682944.1:c.9899_9900delinsAC ENSP00000507173.1:p.Asn3300=
ENST00000683210.1:c.2185+19781_2185+19782delinsAC ENSP00000506739.1:n.2185+19781_2185+19782delinsAC
ENST00000683270.1:c.6445+3418_6445+3419delinsAC ENSP00000507624.1:n.6445+3418_6445+3419delinsAC
ENST00000683367.1:c.2177-4520_2177-4519delinsAC ENSP00000507780.1:n.2177-4520_2177-4519delinsAC
ENST00000683489.1:c.2292-4052_2292-4051delinsAC ENSP00000508403.1:n.2292-4052_2292-4051delinsAC
ENST00000683680.1:c.2319-4052_2319-4051delinsAC ENSP00000507223.1:n.2319-4052_2319-4051delinsAC
ENST00000684163.1:c.2204-4520_2204-4519delinsAC ENSP00000508262.1:n.2204-4520_2204-4519delinsAC
ENST00000684196.1:n.4543-4520_4543-4519delinsAC
ENST00000684325.1:c.2186-12330_2186-12329delinsAC ENSP00000508121.1:n.2186-12330_2186-12329delinsAC
ENST00000684385.1:c.2221-4520_2221-4519delinsAC ENSP00000507855.1:n.2221-4520_2221-4519delinsAC
ENST00000684497.1:c.2186-11360_2186-11359delinsAC ENSP00000507057.1:n.2186-11360_2186-11359delinsAC
ENST00000382292.9:c.9872_9873delinsAC MANE Select ENSP00000371729.3:p.Asn3291=
ENST00000423156.2:c.2186-4520_2186-4519delinsAC ENSP00000390925.2:n.2186-4520_2186-4519delinsAC
ENST00000455470.6:c.2432-4520_2432-4519delinsAC ENSP00000406565.2:n.2432-4520_2432-4519delinsAC
ENST00000382292.7:c.9872_9873delinsAC ENSP00000371729.3:p.Asn3291=
ENST00000382298.7:c.9872_9873delinsAC ENSP00000371735.3:p.Asn3291=
ENST00000402364.1:c.7622_7623delinsAC ENSP00000385844.1:p.Asn2541=
ENST00000423156.1:c.1058-4520_1058-4519delinsAC ENSP00000390925.1:n.1058-4520_1058-4519delinsAC
ENST00000455470.5:c.2130-4520_2130-4519delinsAC
NM_001278055.1:c.9431_9432delinsAC NP_001264984.1:p.Asn3144=
NM_014363.5:c.9872_9873delinsAC NP_055178.3:p.Asn3291=
XM_005266338.1:c.9899_9900delinsAC XP_005266395.1:p.Asn3300=
XM_011535038.1:c.9923_9924delinsAC XP_011533340.1:p.Asn3308=
XM_011535039.1:c.9890_9891delinsAC XP_011533341.1:p.Asn3297=
XM_005266338.2:c.9899_9900delinsAC XP_005266395.1:p.Asn3300=
XM_011535039.2:c.9890_9891delinsAC XP_011533341.1:p.Asn3297=
XM_017020539.1:c.9863_9864delinsAC XP_016876028.1:p.Asn3288=
XM_024449337.1:c.9899_9900delinsAC XP_024305105.1:p.Asn3300=
NM_014363.6:c.9872_9873delinsAC MANE Select NP_055178.3:p.Asn3291=
NM_001278055.2:c.9431_9432delinsAC NP_001264984.1:p.Asn3144=