Canonical Allele Identifier: CA2078625094
Gene: SACS HGNC NCBI

Linked Data

dbSNP Id: rs1868583249

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336266_23336267insCCAA , CM000675.2:g.23336266_23336267insCCAA GRCh38
NC_000013.10:g.23910405_23910406insCCAA , CM000675.1:g.23910405_23910406insCCAA GRCh37
NC_000013.9:g.22808405_22808406insCCAA NCBI36
NG_012342.1:g.102436_102437insTTGG

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+17518_2185+17519insTTGG ENSP00000508399.1:n.2185+17518_2185+17519...
ENST00000682944.1:c.7636_7637insTTGG ENSP00000507173.1:p.Asn2546IlefsTer7
ENST00000683210.1:c.2185+17518_2185+17519insTTGG ENSP00000506739.1:n.2185+17518_2185+17519...
ENST00000683270.1:c.6445+1155_6445+1156insTTGG ENSP00000507624.1:n.6445+1155_6445+1156in...
ENST00000683367.1:c.2177-6783_2177-6782insTTGG ENSP00000507780.1:n.2177-6783_2177-6782in...
ENST00000683489.1:c.2291+5318_2291+5319insTTGG ENSP00000508403.1:n.2291+5318_2291+5319in...
ENST00000683680.1:c.2318+5318_2318+5319insTTGG ENSP00000507223.1:n.2318+5318_2318+5319in...
ENST00000684163.1:c.2204-6783_2204-6782insTTGG ENSP00000508262.1:n.2204-6783_2204-6782in...
ENST00000684196.1:n.4543-6783_4543-6782insTTGG
ENST00000684325.1:c.2186-14593_2186-14592insTTGG ENSP00000508121.1:n.2186-14593_2186-14592...
ENST00000684385.1:c.2221-6783_2221-6782insTTGG ENSP00000507855.1:n.2221-6783_2221-6782in...
ENST00000684497.1:c.2186-13623_2186-13622insTTGG ENSP00000507057.1:n.2186-13623_2186-13622...
ENST00000382292.9:c.7609_7610insTTGG MANE Select ENSP00000371729.3:p.Asn2537IlefsTer7
ENST00000423156.2:c.2186-6783_2186-6782insTTGG ENSP00000390925.2:n.2186-6783_2186-6782in...
ENST00000455470.6:c.2431+5178_2431+5179insTTGG ENSP00000406565.2:n.2431+5178_2431+5179in...
ENST00000382292.7:c.7609_7610insTTGG ENSP00000371729.3:p.Asn2537IlefsTer7
ENST00000382298.7:c.7609_7610insTTGG ENSP00000371735.3:p.Asn2537IlefsTer7
ENST00000402364.1:c.5359_5360insTTGG ENSP00000385844.1:p.Asn1787IlefsTer7
ENST00000423156.1:c.1058-6783_1058-6782insTTGG ENSP00000390925.1:n.1058-6783_1058-6782in...
ENST00000455470.5:c.2129+5178_2129+5179insTTGG
NM_001278055.1:c.7168_7169insTTGG NP_001264984.1:p.Asn2390IlefsTer7
NM_014363.5:c.7609_7610insTTGG NP_055178.3:p.Asn2537IlefsTer7
XM_005266338.1:c.7636_7637insTTGG XP_005266395.1:p.Asn2546IlefsTer7
XM_011535038.1:c.7660_7661insTTGG XP_011533340.1:p.Asn2554IlefsTer7
XM_011535039.1:c.7627_7628insTTGG XP_011533341.1:p.Asn2543IlefsTer7
XM_005266338.2:c.7636_7637insTTGG XP_005266395.1:p.Asn2546IlefsTer7
XM_011535039.2:c.7627_7628insTTGG XP_011533341.1:p.Asn2543IlefsTer7
XM_017020539.1:c.7600_7601insTTGG XP_016876028.1:p.Asn2534IlefsTer7
XM_024449337.1:c.7636_7637insTTGG XP_024305105.1:p.Asn2546IlefsTer7
NM_014363.6:c.7609_7610insTTGG MANE Select NP_055178.3:p.Asn2537IlefsTer7
NM_001278055.2:c.7168_7169insTTGG NP_001264984.1:p.Asn2390IlefsTer7