Canonical Allele Identifier: CA2078628342
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23337950_23337951delinsTC , CM000675.2:g.23337950_23337951delinsTC GRCh38
NC_000013.10:g.23912089_23912090delinsTC , CM000675.1:g.23912089_23912090delinsTC GRCh37
NC_000013.9:g.22810089_22810090delinsTC NCBI36
NG_012342.1:g.100752_100753delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+15834_2185+15835delinsGA ENSP00000508399.1:n.2185+15834_2185+15835delinsGA
ENST00000682944.1:c.5952_5953delinsGA ENSP00000507173.1:p.Leu1984=
ENST00000683210.1:c.2185+15834_2185+15835delinsGA ENSP00000506739.1:n.2185+15834_2185+15835delinsGA
ENST00000683270.1:c.5916_5917delinsGA ENSP00000507624.1:p.Leu1972=
ENST00000683367.1:c.2177-8467_2177-8466delinsGA ENSP00000507780.1:n.2177-8467_2177-8466delinsGA
ENST00000683489.1:c.2291+3634_2291+3635delinsGA ENSP00000508403.1:n.2291+3634_2291+3635delinsGA
ENST00000683680.1:c.2318+3634_2318+3635delinsGA ENSP00000507223.1:n.2318+3634_2318+3635delinsGA
ENST00000684163.1:c.2204-8467_2204-8466delinsGA ENSP00000508262.1:n.2204-8467_2204-8466delinsGA
ENST00000684196.1:n.4543-8467_4543-8466delinsGA
ENST00000684325.1:c.2185+15834_2185+15835delinsGA ENSP00000508121.1:n.2185+15834_2185+15835delinsGA
ENST00000684385.1:c.2221-8467_2221-8466delinsGA ENSP00000507855.1:n.2221-8467_2221-8466delinsGA
ENST00000684497.1:c.2186-15307_2186-15306delinsGA ENSP00000507057.1:n.2186-15307_2186-15306delinsGA
ENST00000382292.9:c.5925_5926delinsGA MANE Select ENSP00000371729.3:p.Leu1975=
ENST00000423156.2:c.2186-8467_2186-8466delinsGA ENSP00000390925.2:n.2186-8467_2186-8466delinsGA
ENST00000455470.6:c.2431+3494_2431+3495delinsGA ENSP00000406565.2:n.2431+3494_2431+3495delinsGA
ENST00000382292.7:c.5925_5926delinsGA ENSP00000371729.3:p.Leu1975=
ENST00000382298.7:c.5925_5926delinsGA ENSP00000371735.3:p.Leu1975=
ENST00000402364.1:c.3675_3676delinsGA ENSP00000385844.1:p.Leu1225=
ENST00000423156.1:c.1058-8467_1058-8466delinsGA ENSP00000390925.1:n.1058-8467_1058-8466delinsGA
ENST00000455470.5:c.2129+3494_2129+3495delinsGA
NM_001278055.1:c.5484_5485delinsGA NP_001264984.1:p.Leu1828=
NM_014363.5:c.5925_5926delinsGA NP_055178.3:p.Leu1975=
XM_005266338.1:c.5952_5953delinsGA XP_005266395.1:p.Leu1984=
XM_011535038.1:c.5976_5977delinsGA XP_011533340.1:p.Leu1992=
XM_011535039.1:c.5943_5944delinsGA XP_011533341.1:p.Leu1981=
XM_005266338.2:c.5952_5953delinsGA XP_005266395.1:p.Leu1984=
XM_011535039.2:c.5943_5944delinsGA XP_011533341.1:p.Leu1981=
XM_017020539.1:c.5916_5917delinsGA XP_016876028.1:p.Leu1972=
XM_024449337.1:c.5952_5953delinsGA XP_024305105.1:p.Leu1984=
NM_014363.6:c.5925_5926delinsGA MANE Select NP_055178.3:p.Leu1975=
NM_001278055.2:c.5484_5485delinsGA NP_001264984.1:p.Leu1828=