Canonical Allele Identifier: CA2078625322
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336371_23336382delinsCGCTTTGGGACT , CM000675.2:g.23336371_23336382delinsCGCTTTGGGACT GRCh38
NC_000013.10:g.23910510_23910521delinsCGCTTTGGGACT , CM000675.1:g.23910510_23910521delinsCGCTTTGGGACT GRCh37
NC_000013.9:g.22808510_22808521delinsCGCTTTGGGACT NCBI36
NG_012342.1:g.102321_102332delinsAGTCCCAAAGCG

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+17403_2185+17414delinsAGTCCCAAAGCG ENSP00000508399.1:n.2185+17403_2185+17414...
ENST00000682944.1:c.7521_7532delinsAGTCCCAAAGCG ENSP00000507173.1:p.Ala2507=
ENST00000683210.1:c.2185+17403_2185+17414delinsAGTCCCAAAGCG ENSP00000506739.1:n.2185+17403_2185+17414...
ENST00000683270.1:c.6445+1040_6445+1051delinsAGTCCCAAAGCG ENSP00000507624.1:n.6445+1040_6445+1051de...
ENST00000683367.1:c.2177-6898_2177-6887delinsAGTCCCAAAGCG ENSP00000507780.1:n.2177-6898_2177-6887de...
ENST00000683489.1:c.2291+5203_2291+5214delinsAGTCCCAAAGCG ENSP00000508403.1:n.2291+5203_2291+5214de...
ENST00000683680.1:c.2318+5203_2318+5214delinsAGTCCCAAAGCG ENSP00000507223.1:n.2318+5203_2318+5214de...
ENST00000684163.1:c.2204-6898_2204-6887delinsAGTCCCAAAGCG ENSP00000508262.1:n.2204-6898_2204-6887de...
ENST00000684196.1:n.4543-6898_4543-6887delinsAGTCCCAAAGCG
ENST00000684325.1:c.2186-14708_2186-14697delinsAGTCCCAAAGCG ENSP00000508121.1:n.2186-14708_2186-14697...
ENST00000684385.1:c.2221-6898_2221-6887delinsAGTCCCAAAGCG ENSP00000507855.1:n.2221-6898_2221-6887de...
ENST00000684497.1:c.2186-13738_2186-13727delinsAGTCCCAAAGCG ENSP00000507057.1:n.2186-13738_2186-13727...
ENST00000382292.9:c.7494_7505delinsAGTCCCAAAGCG MANE Select ENSP00000371729.3:p.Ala2498=
ENST00000423156.2:c.2186-6898_2186-6887delinsAGTCCCAAAGCG ENSP00000390925.2:n.2186-6898_2186-6887de...
ENST00000455470.6:c.2431+5063_2431+5074delinsAGTCCCAAAGCG ENSP00000406565.2:n.2431+5063_2431+5074de...
ENST00000382292.7:c.7494_7505delinsAGTCCCAAAGCG ENSP00000371729.3:p.Ala2498=
ENST00000382298.7:c.7494_7505delinsAGTCCCAAAGCG ENSP00000371735.3:p.Ala2498=
ENST00000402364.1:c.5244_5255delinsAGTCCCAAAGCG ENSP00000385844.1:p.Ala1748=
ENST00000423156.1:c.1058-6898_1058-6887delinsAGTCCCAAAGCG ENSP00000390925.1:n.1058-6898_1058-6887de...
ENST00000455470.5:c.2129+5063_2129+5074delinsAGTCCCAAAGCG
NM_001278055.1:c.7053_7064delinsAGTCCCAAAGCG NP_001264984.1:p.Ala2351=
NM_014363.5:c.7494_7505delinsAGTCCCAAAGCG NP_055178.3:p.Ala2498=
XM_005266338.1:c.7521_7532delinsAGTCCCAAAGCG XP_005266395.1:p.Ala2507=
XM_011535038.1:c.7545_7556delinsAGTCCCAAAGCG XP_011533340.1:p.Ala2515=
XM_011535039.1:c.7512_7523delinsAGTCCCAAAGCG XP_011533341.1:p.Ala2504=
XM_005266338.2:c.7521_7532delinsAGTCCCAAAGCG XP_005266395.1:p.Ala2507=
XM_011535039.2:c.7512_7523delinsAGTCCCAAAGCG XP_011533341.1:p.Ala2504=
XM_017020539.1:c.7485_7496delinsAGTCCCAAAGCG XP_016876028.1:p.Ala2495=
XM_024449337.1:c.7521_7532delinsAGTCCCAAAGCG XP_024305105.1:p.Ala2507=
NM_014363.6:c.7494_7505delinsAGTCCCAAAGCG MANE Select NP_055178.3:p.Ala2498=
NM_001278055.2:c.7053_7064delinsAGTCCCAAAGCG NP_001264984.1:p.Ala2351=