Canonical Allele Identifier: CA2078625876
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336621_23336626delinsCTTCTG , CM000675.2:g.23336621_23336626delinsCTTCTG GRCh38
NC_000013.10:g.23910760_23910765delinsCTTCTG , CM000675.1:g.23910760_23910765delinsCTTCTG GRCh37
NC_000013.9:g.22808760_22808765delinsCTTCTG NCBI36
NG_012342.1:g.102077_102082delinsCAGAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+17159_2185+17164delinsCAGAAG ENSP00000508399.1:n.2185+17159_2185+17164delinsCAGAAG
ENST00000682944.1:c.7277_7282delinsCAGAAG ENSP00000507173.1:p.Thr2426=
ENST00000683210.1:c.2185+17159_2185+17164delinsCAGAAG ENSP00000506739.1:n.2185+17159_2185+17164delinsCAGAAG
ENST00000683270.1:c.6445+796_6445+801delinsCAGAAG ENSP00000507624.1:n.6445+796_6445+801delinsCAGAAG
ENST00000683367.1:c.2177-7142_2177-7137delinsCAGAAG ENSP00000507780.1:n.2177-7142_2177-7137delinsCAGAAG
ENST00000683489.1:c.2291+4959_2291+4964delinsCAGAAG ENSP00000508403.1:n.2291+4959_2291+4964delinsCAGAAG
ENST00000683680.1:c.2318+4959_2318+4964delinsCAGAAG ENSP00000507223.1:n.2318+4959_2318+4964delinsCAGAAG
ENST00000684163.1:c.2204-7142_2204-7137delinsCAGAAG ENSP00000508262.1:n.2204-7142_2204-7137delinsCAGAAG
ENST00000684196.1:n.4543-7142_4543-7137delinsCAGAAG
ENST00000684325.1:c.2186-14952_2186-14947delinsCAGAAG ENSP00000508121.1:n.2186-14952_2186-14947delinsCAGAAG
ENST00000684385.1:c.2221-7142_2221-7137delinsCAGAAG ENSP00000507855.1:n.2221-7142_2221-7137delinsCAGAAG
ENST00000684497.1:c.2186-13982_2186-13977delinsCAGAAG ENSP00000507057.1:n.2186-13982_2186-13977delinsCAGAAG
ENST00000382292.9:c.7250_7255delinsCAGAAG MANE Select ENSP00000371729.3:p.Thr2417=
ENST00000423156.2:c.2186-7142_2186-7137delinsCAGAAG ENSP00000390925.2:n.2186-7142_2186-7137delinsCAGAAG
ENST00000455470.6:c.2431+4819_2431+4824delinsCAGAAG ENSP00000406565.2:n.2431+4819_2431+4824delinsCAGAAG
ENST00000382292.7:c.7250_7255delinsCAGAAG ENSP00000371729.3:p.Thr2417=
ENST00000382298.7:c.7250_7255delinsCAGAAG ENSP00000371735.3:p.Thr2417=
ENST00000402364.1:c.5000_5005delinsCAGAAG ENSP00000385844.1:p.Thr1667=
ENST00000423156.1:c.1058-7142_1058-7137delinsCAGAAG ENSP00000390925.1:n.1058-7142_1058-7137delinsCAGAAG
ENST00000455470.5:c.2129+4819_2129+4824delinsCAGAAG
NM_001278055.1:c.6809_6814delinsCAGAAG NP_001264984.1:p.Thr2270=
NM_014363.5:c.7250_7255delinsCAGAAG NP_055178.3:p.Thr2417=
XM_005266338.1:c.7277_7282delinsCAGAAG XP_005266395.1:p.Thr2426=
XM_011535038.1:c.7301_7306delinsCAGAAG XP_011533340.1:p.Thr2434=
XM_011535039.1:c.7268_7273delinsCAGAAG XP_011533341.1:p.Thr2423=
XM_005266338.2:c.7277_7282delinsCAGAAG XP_005266395.1:p.Thr2426=
XM_011535039.2:c.7268_7273delinsCAGAAG XP_011533341.1:p.Thr2423=
XM_017020539.1:c.7241_7246delinsCAGAAG XP_016876028.1:p.Thr2414=
XM_024449337.1:c.7277_7282delinsCAGAAG XP_024305105.1:p.Thr2426=
NM_014363.6:c.7250_7255delinsCAGAAG MANE Select NP_055178.3:p.Thr2417=
NM_001278055.2:c.6809_6814delinsCAGAAG NP_001264984.1:p.Thr2270=