Canonical Allele Identifier: CA2622329060
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23340709_23340738dup , CM000675.2:g.23340709_23340738dup GRCh38
NC_000013.10:g.23914848_23914877dup , CM000675.1:g.23914848_23914877dup GRCh37
NC_000013.9:g.22812848_22812877dup NCBI36
NG_012342.1:g.97965_97994dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+13047_2185+13076dup ENSP00000508399.1:n.2185+13047_2185+13076...
ENST00000682944.1:c.3165_3194dup ENSP00000507173.1:p.Pro1065_Asp1066insMet...
ENST00000683210.1:c.2185+13047_2185+13076dup ENSP00000506739.1:n.2185+13047_2185+13076...
ENST00000683270.1:c.3129_3158dup ENSP00000507624.1:p.Pro1053_Asp1054insMet...
ENST00000683367.1:c.2177-11254_2177-11225dup ENSP00000507780.1:n.2177-11254_2177-11225...
ENST00000683489.1:c.2291+847_2291+876dup ENSP00000508403.1:n.2291+847_2291+876dup
ENST00000683680.1:c.2318+847_2318+876dup ENSP00000507223.1:n.2318+847_2318+876dup
ENST00000684163.1:c.2203+6073_2203+6102dup ENSP00000508262.1:n.2203+6073_2203+6102du...
ENST00000684196.1:n.4543-11254_4543-11225dup
ENST00000684325.1:c.2185+13047_2185+13076dup ENSP00000508121.1:n.2185+13047_2185+13076...
ENST00000684385.1:c.2220+6073_2220+6102dup ENSP00000507855.1:n.2220+6073_2220+6102du...
ENST00000684497.1:c.2185+13047_2185+13076dup ENSP00000507057.1:n.2185+13047_2185+13076...
ENST00000382292.9:c.3138_3167dup MANE Select ENSP00000371729.3:p.Pro1056_Asp1057insMet...
ENST00000423156.2:c.2186-11254_2186-11225dup ENSP00000390925.2:n.2186-11254_2186-11225...
ENST00000455470.6:c.2431+707_2431+736dup ENSP00000406565.2:n.2431+707_2431+736dup
ENST00000382292.7:c.3138_3167dup ENSP00000371729.3:p.Pro1056_Asp1057insMet...
ENST00000382298.7:c.3138_3167dup ENSP00000371735.3:p.Pro1056_Asp1057insMet...
ENST00000402364.1:c.888_917dup ENSP00000385844.1:p.Pro306_Asp307insMetVa...
ENST00000423156.1:c.1058-11254_1058-11225dup ENSP00000390925.1:n.1058-11254_1058-11225...
ENST00000455470.5:c.2129+707_2129+736dup
NM_001278055.1:c.2697_2726dup NP_001264984.1:p.Pro909_Asp910insMetValSe...
NM_014363.5:c.3138_3167dup NP_055178.3:p.Pro1056_Asp1057insMetValSer...
XM_005266338.1:c.3165_3194dup XP_005266395.1:p.Pro1065_Asp1066insMetVal...
XM_011535038.1:c.3189_3218dup XP_011533340.1:p.Pro1073_Asp1074insMetVal...
XM_011535039.1:c.3156_3185dup XP_011533341.1:p.Pro1062_Asp1063insMetVal...
XM_005266338.2:c.3165_3194dup XP_005266395.1:p.Pro1065_Asp1066insMetVal...
XM_011535039.2:c.3156_3185dup XP_011533341.1:p.Pro1062_Asp1063insMetVal...
XM_017020539.1:c.3129_3158dup XP_016876028.1:p.Pro1053_Asp1054insMetVal...
XM_024449337.1:c.3165_3194dup XP_024305105.1:p.Pro1065_Asp1066insMetVal...
NM_014363.6:c.3138_3167dup MANE Select NP_055178.3:p.Pro1056_Asp1057insMetValSer...
NM_001278055.2:c.2697_2726dup NP_001264984.1:p.Pro909_Asp910insMetValSe...