Canonical Allele Identifier: CA2078622350
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23335002_23335003delinsCT , CM000675.2:g.23335002_23335003delinsCT GRCh38
NC_000013.10:g.23909141_23909142delinsCT , CM000675.1:g.23909141_23909142delinsCT GRCh37
NC_000013.9:g.22807141_22807142delinsCT NCBI36
NG_012342.1:g.103700_103701delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+18782_2185+18783delinsAG ENSP00000508399.1:n.2185+18782_2185+18783delinsAG
ENST00000682944.1:c.8900_8901delinsAG ENSP00000507173.1:p.Lys2967=
ENST00000683210.1:c.2185+18782_2185+18783delinsAG ENSP00000506739.1:n.2185+18782_2185+18783delinsAG
ENST00000683270.1:c.6445+2419_6445+2420delinsAG ENSP00000507624.1:n.6445+2419_6445+2420delinsAG
ENST00000683367.1:c.2177-5519_2177-5518delinsAG ENSP00000507780.1:n.2177-5519_2177-5518delinsAG
ENST00000683489.1:c.2292-5051_2292-5050delinsAG ENSP00000508403.1:n.2292-5051_2292-5050delinsAG
ENST00000683680.1:c.2319-5051_2319-5050delinsAG ENSP00000507223.1:n.2319-5051_2319-5050delinsAG
ENST00000684163.1:c.2204-5519_2204-5518delinsAG ENSP00000508262.1:n.2204-5519_2204-5518delinsAG
ENST00000684196.1:n.4543-5519_4543-5518delinsAG
ENST00000684325.1:c.2186-13329_2186-13328delinsAG ENSP00000508121.1:n.2186-13329_2186-13328delinsAG
ENST00000684385.1:c.2221-5519_2221-5518delinsAG ENSP00000507855.1:n.2221-5519_2221-5518delinsAG
ENST00000684497.1:c.2186-12359_2186-12358delinsAG ENSP00000507057.1:n.2186-12359_2186-12358delinsAG
ENST00000382292.9:c.8873_8874delinsAG MANE Select ENSP00000371729.3:p.Lys2958=
ENST00000423156.2:c.2186-5519_2186-5518delinsAG ENSP00000390925.2:n.2186-5519_2186-5518delinsAG
ENST00000455470.6:c.2432-5519_2432-5518delinsAG ENSP00000406565.2:n.2432-5519_2432-5518delinsAG
ENST00000382292.7:c.8873_8874delinsAG ENSP00000371729.3:p.Lys2958=
ENST00000382298.7:c.8873_8874delinsAG ENSP00000371735.3:p.Lys2958=
ENST00000402364.1:c.6623_6624delinsAG ENSP00000385844.1:p.Lys2208=
ENST00000423156.1:c.1058-5519_1058-5518delinsAG ENSP00000390925.1:n.1058-5519_1058-5518delinsAG
ENST00000455470.5:c.2130-5519_2130-5518delinsAG
NM_001278055.1:c.8432_8433delinsAG NP_001264984.1:p.Lys2811=
NM_014363.5:c.8873_8874delinsAG NP_055178.3:p.Lys2958=
XM_005266338.1:c.8900_8901delinsAG XP_005266395.1:p.Lys2967=
XM_011535038.1:c.8924_8925delinsAG XP_011533340.1:p.Lys2975=
XM_011535039.1:c.8891_8892delinsAG XP_011533341.1:p.Lys2964=
XM_005266338.2:c.8900_8901delinsAG XP_005266395.1:p.Lys2967=
XM_011535039.2:c.8891_8892delinsAG XP_011533341.1:p.Lys2964=
XM_017020539.1:c.8864_8865delinsAG XP_016876028.1:p.Lys2955=
XM_024449337.1:c.8900_8901delinsAG XP_024305105.1:p.Lys2967=
NM_014363.6:c.8873_8874delinsAG MANE Select NP_055178.3:p.Lys2958=
NM_001278055.2:c.8432_8433delinsAG NP_001264984.1:p.Lys2811=