Canonical Allele Identifier: CA2078621166
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334377_23334378delinsCA , CM000675.2:g.23334377_23334378delinsCA GRCh38
NC_000013.10:g.23908516_23908517delinsCA , CM000675.1:g.23908516_23908517delinsCA GRCh37
NC_000013.9:g.22806516_22806517delinsCA NCBI36
NG_012342.1:g.104325_104326delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+19407_2185+19408delinsTG ENSP00000508399.1:n.2185+19407_2185+19408delinsTG
ENST00000682944.1:c.9525_9526delinsTG ENSP00000507173.1:p.Phe3175=
ENST00000683210.1:c.2185+19407_2185+19408delinsTG ENSP00000506739.1:n.2185+19407_2185+19408delinsTG
ENST00000683270.1:c.6445+3044_6445+3045delinsTG ENSP00000507624.1:n.6445+3044_6445+3045delinsTG
ENST00000683367.1:c.2177-4894_2177-4893delinsTG ENSP00000507780.1:n.2177-4894_2177-4893delinsTG
ENST00000683489.1:c.2292-4426_2292-4425delinsTG ENSP00000508403.1:n.2292-4426_2292-4425delinsTG
ENST00000683680.1:c.2319-4426_2319-4425delinsTG ENSP00000507223.1:n.2319-4426_2319-4425delinsTG
ENST00000684163.1:c.2204-4894_2204-4893delinsTG ENSP00000508262.1:n.2204-4894_2204-4893delinsTG
ENST00000684196.1:n.4543-4894_4543-4893delinsTG
ENST00000684325.1:c.2186-12704_2186-12703delinsTG ENSP00000508121.1:n.2186-12704_2186-12703delinsTG
ENST00000684385.1:c.2221-4894_2221-4893delinsTG ENSP00000507855.1:n.2221-4894_2221-4893delinsTG
ENST00000684497.1:c.2186-11734_2186-11733delinsTG ENSP00000507057.1:n.2186-11734_2186-11733delinsTG
ENST00000382292.9:c.9498_9499delinsTG MANE Select ENSP00000371729.3:p.Phe3166=
ENST00000423156.2:c.2186-4894_2186-4893delinsTG ENSP00000390925.2:n.2186-4894_2186-4893delinsTG
ENST00000455470.6:c.2432-4894_2432-4893delinsTG ENSP00000406565.2:n.2432-4894_2432-4893delinsTG
ENST00000382292.7:c.9498_9499delinsTG ENSP00000371729.3:p.Phe3166=
ENST00000382298.7:c.9498_9499delinsTG ENSP00000371735.3:p.Phe3166=
ENST00000402364.1:c.7248_7249delinsTG ENSP00000385844.1:p.Phe2416=
ENST00000423156.1:c.1058-4894_1058-4893delinsTG ENSP00000390925.1:n.1058-4894_1058-4893delinsTG
ENST00000455470.5:c.2130-4894_2130-4893delinsTG
NM_001278055.1:c.9057_9058delinsTG NP_001264984.1:p.Phe3019=
NM_014363.5:c.9498_9499delinsTG NP_055178.3:p.Phe3166=
XM_005266338.1:c.9525_9526delinsTG XP_005266395.1:p.Phe3175=
XM_011535038.1:c.9549_9550delinsTG XP_011533340.1:p.Phe3183=
XM_011535039.1:c.9516_9517delinsTG XP_011533341.1:p.Phe3172=
XM_005266338.2:c.9525_9526delinsTG XP_005266395.1:p.Phe3175=
XM_011535039.2:c.9516_9517delinsTG XP_011533341.1:p.Phe3172=
XM_017020539.1:c.9489_9490delinsTG XP_016876028.1:p.Phe3163=
XM_024449337.1:c.9525_9526delinsTG XP_024305105.1:p.Phe3175=
NM_014363.6:c.9498_9499delinsTG MANE Select NP_055178.3:p.Phe3166=
NM_001278055.2:c.9057_9058delinsTG NP_001264984.1:p.Phe3019=