Canonical Allele Identifier: CA2078621450
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334543_23334544delinsAT , CM000675.2:g.23334543_23334544delinsAT GRCh38
NC_000013.10:g.23908682_23908683delinsAT , CM000675.1:g.23908682_23908683delinsAT GRCh37
NC_000013.9:g.22806682_22806683delinsAT NCBI36
NG_012342.1:g.104159_104160delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+19241_2185+19242delinsAT ENSP00000508399.1:n.2185+19241_2185+19242delinsAT
ENST00000682944.1:c.9359_9360delinsAT ENSP00000507173.1:p.Asn3120=
ENST00000683210.1:c.2185+19241_2185+19242delinsAT ENSP00000506739.1:n.2185+19241_2185+19242delinsAT
ENST00000683270.1:c.6445+2878_6445+2879delinsAT ENSP00000507624.1:n.6445+2878_6445+2879delinsAT
ENST00000683367.1:c.2177-5060_2177-5059delinsAT ENSP00000507780.1:n.2177-5060_2177-5059delinsAT
ENST00000683489.1:c.2292-4592_2292-4591delinsAT ENSP00000508403.1:n.2292-4592_2292-4591delinsAT
ENST00000683680.1:c.2319-4592_2319-4591delinsAT ENSP00000507223.1:n.2319-4592_2319-4591delinsAT
ENST00000684163.1:c.2204-5060_2204-5059delinsAT ENSP00000508262.1:n.2204-5060_2204-5059delinsAT
ENST00000684196.1:n.4543-5060_4543-5059delinsAT
ENST00000684325.1:c.2186-12870_2186-12869delinsAT ENSP00000508121.1:n.2186-12870_2186-12869delinsAT
ENST00000684385.1:c.2221-5060_2221-5059delinsAT ENSP00000507855.1:n.2221-5060_2221-5059delinsAT
ENST00000684497.1:c.2186-11900_2186-11899delinsAT ENSP00000507057.1:n.2186-11900_2186-11899delinsAT
ENST00000382292.9:c.9332_9333delinsAT MANE Select ENSP00000371729.3:p.Asn3111=
ENST00000423156.2:c.2186-5060_2186-5059delinsAT ENSP00000390925.2:n.2186-5060_2186-5059delinsAT
ENST00000455470.6:c.2432-5060_2432-5059delinsAT ENSP00000406565.2:n.2432-5060_2432-5059delinsAT
ENST00000382292.7:c.9332_9333delinsAT ENSP00000371729.3:p.Asn3111=
ENST00000382298.7:c.9332_9333delinsAT ENSP00000371735.3:p.Asn3111=
ENST00000402364.1:c.7082_7083delinsAT ENSP00000385844.1:p.Asn2361=
ENST00000423156.1:c.1058-5060_1058-5059delinsAT ENSP00000390925.1:n.1058-5060_1058-5059delinsAT
ENST00000455470.5:c.2130-5060_2130-5059delinsAT
NM_001278055.1:c.8891_8892delinsAT NP_001264984.1:p.Asn2964=
NM_014363.5:c.9332_9333delinsAT NP_055178.3:p.Asn3111=
XM_005266338.1:c.9359_9360delinsAT XP_005266395.1:p.Asn3120=
XM_011535038.1:c.9383_9384delinsAT XP_011533340.1:p.Asn3128=
XM_011535039.1:c.9350_9351delinsAT XP_011533341.1:p.Asn3117=
XM_005266338.2:c.9359_9360delinsAT XP_005266395.1:p.Asn3120=
XM_011535039.2:c.9350_9351delinsAT XP_011533341.1:p.Asn3117=
XM_017020539.1:c.9323_9324delinsAT XP_016876028.1:p.Asn3108=
XM_024449337.1:c.9359_9360delinsAT XP_024305105.1:p.Asn3120=
NM_014363.6:c.9332_9333delinsAT MANE Select NP_055178.3:p.Asn3111=
NM_001278055.2:c.8891_8892delinsAT NP_001264984.1:p.Asn2964=