Canonical Allele Identifier: CA2541780167
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23340718_23340719insAAAGGAT , CM000675.2:g.23340718_23340719insAAAGGAT GRCh38
NC_000013.10:g.23914857_23914858insAAAGGAT , CM000675.1:g.23914857_23914858insAAAGGAT GRCh37
NC_000013.9:g.22812857_22812858insAAAGGAT NCBI36
NG_012342.1:g.97984_97985insATCCTTT

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+13066_2185+13067insATCCTTT ENSP00000508399.1:n.2185+13066_2185+13067...
ENST00000682944.1:c.3184_3185insATCCTTT ENSP00000507173.1:p.Leu1062HisfsTer5
ENST00000683210.1:c.2185+13066_2185+13067insATCCTTT ENSP00000506739.1:n.2185+13066_2185+13067...
ENST00000683270.1:c.3148_3149insATCCTTT ENSP00000507624.1:p.Leu1050HisfsTer5
ENST00000683367.1:c.2177-11235_2177-11234insATCCTTT ENSP00000507780.1:n.2177-11235_2177-11234...
ENST00000683489.1:c.2291+866_2291+867insATCCTTT ENSP00000508403.1:n.2291+866_2291+867insA...
ENST00000683680.1:c.2318+866_2318+867insATCCTTT ENSP00000507223.1:n.2318+866_2318+867insA...
ENST00000684163.1:c.2203+6092_2203+6093insATCCTTT ENSP00000508262.1:n.2203+6092_2203+6093in...
ENST00000684196.1:n.4543-11235_4543-11234insATCCTTT
ENST00000684325.1:c.2185+13066_2185+13067insATCCTTT ENSP00000508121.1:n.2185+13066_2185+13067...
ENST00000684385.1:c.2220+6092_2220+6093insATCCTTT ENSP00000507855.1:n.2220+6092_2220+6093in...
ENST00000684497.1:c.2185+13066_2185+13067insATCCTTT ENSP00000507057.1:n.2185+13066_2185+13067...
ENST00000382292.9:c.3157_3158insATCCTTT MANE Select ENSP00000371729.3:p.Leu1053HisfsTer5
ENST00000423156.2:c.2186-11235_2186-11234insATCCTTT ENSP00000390925.2:n.2186-11235_2186-11234...
ENST00000455470.6:c.2431+726_2431+727insATCCTTT ENSP00000406565.2:n.2431+726_2431+727insA...
ENST00000382292.7:c.3157_3158insATCCTTT ENSP00000371729.3:p.Leu1053HisfsTer5
ENST00000382298.7:c.3157_3158insATCCTTT ENSP00000371735.3:p.Leu1053HisfsTer5
ENST00000402364.1:c.907_908insATCCTTT ENSP00000385844.1:p.Leu303HisfsTer5
ENST00000423156.1:c.1058-11235_1058-11234insATCCTTT ENSP00000390925.1:n.1058-11235_1058-11234...
ENST00000455470.5:c.2129+726_2129+727insATCCTTT
NM_001278055.1:c.2716_2717insATCCTTT NP_001264984.1:p.Leu906HisfsTer5
NM_014363.5:c.3157_3158insATCCTTT NP_055178.3:p.Leu1053HisfsTer5
XM_005266338.1:c.3184_3185insATCCTTT XP_005266395.1:p.Leu1062HisfsTer5
XM_011535038.1:c.3208_3209insATCCTTT XP_011533340.1:p.Leu1070HisfsTer5
XM_011535039.1:c.3175_3176insATCCTTT XP_011533341.1:p.Leu1059HisfsTer5
XM_005266338.2:c.3184_3185insATCCTTT XP_005266395.1:p.Leu1062HisfsTer5
XM_011535039.2:c.3175_3176insATCCTTT XP_011533341.1:p.Leu1059HisfsTer5
XM_017020539.1:c.3148_3149insATCCTTT XP_016876028.1:p.Leu1050HisfsTer5
XM_024449337.1:c.3184_3185insATCCTTT XP_024305105.1:p.Leu1062HisfsTer5
NM_014363.6:c.3157_3158insATCCTTT MANE Select NP_055178.3:p.Leu1053HisfsTer5
NM_001278055.2:c.2716_2717insATCCTTT NP_001264984.1:p.Leu906HisfsTer5