Canonical Allele Identifier: CA2078622319
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334987_23334988delinsGA , CM000675.2:g.23334987_23334988delinsGA GRCh38
NC_000013.10:g.23909126_23909127delinsGA , CM000675.1:g.23909126_23909127delinsGA GRCh37
NC_000013.9:g.22807126_22807127delinsGA NCBI36
NG_012342.1:g.103715_103716delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+18797_2185+18798delinsTC ENSP00000508399.1:n.2185+18797_2185+18798delinsTC
ENST00000682944.1:c.8915_8916delinsTC ENSP00000507173.1:p.Phe2972=
ENST00000683210.1:c.2185+18797_2185+18798delinsTC ENSP00000506739.1:n.2185+18797_2185+18798delinsTC
ENST00000683270.1:c.6445+2434_6445+2435delinsTC ENSP00000507624.1:n.6445+2434_6445+2435delinsTC
ENST00000683367.1:c.2177-5504_2177-5503delinsTC ENSP00000507780.1:n.2177-5504_2177-5503delinsTC
ENST00000683489.1:c.2292-5036_2292-5035delinsTC ENSP00000508403.1:n.2292-5036_2292-5035delinsTC
ENST00000683680.1:c.2319-5036_2319-5035delinsTC ENSP00000507223.1:n.2319-5036_2319-5035delinsTC
ENST00000684163.1:c.2204-5504_2204-5503delinsTC ENSP00000508262.1:n.2204-5504_2204-5503delinsTC
ENST00000684196.1:n.4543-5504_4543-5503delinsTC
ENST00000684325.1:c.2186-13314_2186-13313delinsTC ENSP00000508121.1:n.2186-13314_2186-13313delinsTC
ENST00000684385.1:c.2221-5504_2221-5503delinsTC ENSP00000507855.1:n.2221-5504_2221-5503delinsTC
ENST00000684497.1:c.2186-12344_2186-12343delinsTC ENSP00000507057.1:n.2186-12344_2186-12343delinsTC
ENST00000382292.9:c.8888_8889delinsTC MANE Select ENSP00000371729.3:p.Phe2963=
ENST00000423156.2:c.2186-5504_2186-5503delinsTC ENSP00000390925.2:n.2186-5504_2186-5503delinsTC
ENST00000455470.6:c.2432-5504_2432-5503delinsTC ENSP00000406565.2:n.2432-5504_2432-5503delinsTC
ENST00000382292.7:c.8888_8889delinsTC ENSP00000371729.3:p.Phe2963=
ENST00000382298.7:c.8888_8889delinsTC ENSP00000371735.3:p.Phe2963=
ENST00000402364.1:c.6638_6639delinsTC ENSP00000385844.1:p.Phe2213=
ENST00000423156.1:c.1058-5504_1058-5503delinsTC ENSP00000390925.1:n.1058-5504_1058-5503delinsTC
ENST00000455470.5:c.2130-5504_2130-5503delinsTC
NM_001278055.1:c.8447_8448delinsTC NP_001264984.1:p.Phe2816=
NM_014363.5:c.8888_8889delinsTC NP_055178.3:p.Phe2963=
XM_005266338.1:c.8915_8916delinsTC XP_005266395.1:p.Phe2972=
XM_011535038.1:c.8939_8940delinsTC XP_011533340.1:p.Phe2980=
XM_011535039.1:c.8906_8907delinsTC XP_011533341.1:p.Phe2969=
XM_005266338.2:c.8915_8916delinsTC XP_005266395.1:p.Phe2972=
XM_011535039.2:c.8906_8907delinsTC XP_011533341.1:p.Phe2969=
XM_017020539.1:c.8879_8880delinsTC XP_016876028.1:p.Phe2960=
XM_024449337.1:c.8915_8916delinsTC XP_024305105.1:p.Phe2972=
NM_014363.6:c.8888_8889delinsTC MANE Select NP_055178.3:p.Phe2963=
NM_001278055.2:c.8447_8448delinsTC NP_001264984.1:p.Phe2816=