Canonical Allele Identifier: CA2078625259
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336351_23336355delinsATCTT , CM000675.2:g.23336351_23336355delinsATCTT GRCh38
NC_000013.10:g.23910490_23910494delinsATCTT , CM000675.1:g.23910490_23910494delinsATCTT GRCh37
NC_000013.9:g.22808490_22808494delinsATCTT NCBI36
NG_012342.1:g.102348_102352delinsAAGAT

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+17430_2185+17434delinsAAGAT ENSP00000508399.1:n.2185+17430_2185+17434...
ENST00000682944.1:c.7548_7552delinsAAGAT ENSP00000507173.1:p.Glu2516=
ENST00000683210.1:c.2185+17430_2185+17434delinsAAGAT ENSP00000506739.1:n.2185+17430_2185+17434...
ENST00000683270.1:c.6445+1067_6445+1071delinsAAGAT ENSP00000507624.1:n.6445+1067_6445+1071de...
ENST00000683367.1:c.2177-6871_2177-6867delinsAAGAT ENSP00000507780.1:n.2177-6871_2177-6867de...
ENST00000683489.1:c.2291+5230_2291+5234delinsAAGAT ENSP00000508403.1:n.2291+5230_2291+5234de...
ENST00000683680.1:c.2318+5230_2318+5234delinsAAGAT ENSP00000507223.1:n.2318+5230_2318+5234de...
ENST00000684163.1:c.2204-6871_2204-6867delinsAAGAT ENSP00000508262.1:n.2204-6871_2204-6867de...
ENST00000684196.1:n.4543-6871_4543-6867delinsAAGAT
ENST00000684325.1:c.2186-14681_2186-14677delinsAAGAT ENSP00000508121.1:n.2186-14681_2186-14677...
ENST00000684385.1:c.2221-6871_2221-6867delinsAAGAT ENSP00000507855.1:n.2221-6871_2221-6867de...
ENST00000684497.1:c.2186-13711_2186-13707delinsAAGAT ENSP00000507057.1:n.2186-13711_2186-13707...
ENST00000382292.9:c.7521_7525delinsAAGAT MANE Select ENSP00000371729.3:p.Glu2507=
ENST00000423156.2:c.2186-6871_2186-6867delinsAAGAT ENSP00000390925.2:n.2186-6871_2186-6867de...
ENST00000455470.6:c.2431+5090_2431+5094delinsAAGAT ENSP00000406565.2:n.2431+5090_2431+5094de...
ENST00000382292.7:c.7521_7525delinsAAGAT ENSP00000371729.3:p.Glu2507=
ENST00000382298.7:c.7521_7525delinsAAGAT ENSP00000371735.3:p.Glu2507=
ENST00000402364.1:c.5271_5275delinsAAGAT ENSP00000385844.1:p.Glu1757=
ENST00000423156.1:c.1058-6871_1058-6867delinsAAGAT ENSP00000390925.1:n.1058-6871_1058-6867de...
ENST00000455470.5:c.2129+5090_2129+5094delinsAAGAT
NM_001278055.1:c.7080_7084delinsAAGAT NP_001264984.1:p.Glu2360=
NM_014363.5:c.7521_7525delinsAAGAT NP_055178.3:p.Glu2507=
XM_005266338.1:c.7548_7552delinsAAGAT XP_005266395.1:p.Glu2516=
XM_011535038.1:c.7572_7576delinsAAGAT XP_011533340.1:p.Glu2524=
XM_011535039.1:c.7539_7543delinsAAGAT XP_011533341.1:p.Glu2513=
XM_005266338.2:c.7548_7552delinsAAGAT XP_005266395.1:p.Glu2516=
XM_011535039.2:c.7539_7543delinsAAGAT XP_011533341.1:p.Glu2513=
XM_017020539.1:c.7512_7516delinsAAGAT XP_016876028.1:p.Glu2504=
XM_024449337.1:c.7548_7552delinsAAGAT XP_024305105.1:p.Glu2516=
NM_014363.6:c.7521_7525delinsAAGAT MANE Select NP_055178.3:p.Glu2507=
NM_001278055.2:c.7080_7084delinsAAGAT NP_001264984.1:p.Glu2360=