Canonical Allele Identifier: CA2078633231
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333449_23333452delinsACCT , CM000675.2:g.23333449_23333452delinsACCT GRCh38
NC_000013.10:g.23907588_23907591delinsACCT , CM000675.1:g.23907588_23907591delinsACCT GRCh37
NC_000013.9:g.22805588_22805591delinsACCT NCBI36
NG_012342.1:g.105251_105254delinsAGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+20333_2185+20336delinsAGGT ENSP00000508399.1:n.2185+20333_2185+20336delinsAGGT
ENST00000682944.1:c.10451_10454delinsAGGT ENSP00000507173.1:p.Glu3484=
ENST00000683210.1:c.2185+20333_2185+20336delinsAGGT ENSP00000506739.1:n.2185+20333_2185+20336delinsAGGT
ENST00000683270.1:c.6446-3968_6446-3965delinsAGGT ENSP00000507624.1:n.6446-3968_6446-3965delinsAGGT
ENST00000683367.1:c.2177-3968_2177-3965delinsAGGT ENSP00000507780.1:n.2177-3968_2177-3965delinsAGGT
ENST00000683489.1:c.2292-3500_2292-3497delinsAGGT ENSP00000508403.1:n.2292-3500_2292-3497delinsAGGT
ENST00000683680.1:c.2319-3500_2319-3497delinsAGGT ENSP00000507223.1:n.2319-3500_2319-3497delinsAGGT
ENST00000684163.1:c.2204-3968_2204-3965delinsAGGT ENSP00000508262.1:n.2204-3968_2204-3965delinsAGGT
ENST00000684196.1:n.4543-3968_4543-3965delinsAGGT
ENST00000684325.1:c.2186-11778_2186-11775delinsAGGT ENSP00000508121.1:n.2186-11778_2186-11775delinsAGGT
ENST00000684385.1:c.2221-3968_2221-3965delinsAGGT ENSP00000507855.1:n.2221-3968_2221-3965delinsAGGT
ENST00000684497.1:c.2186-10808_2186-10805delinsAGGT ENSP00000507057.1:n.2186-10808_2186-10805delinsAGGT
ENST00000382292.9:c.10424_10427delinsAGGT MANE Select ENSP00000371729.3:p.Glu3475=
ENST00000423156.2:c.2186-3968_2186-3965delinsAGGT ENSP00000390925.2:n.2186-3968_2186-3965delinsAGGT
ENST00000455470.6:c.2432-3968_2432-3965delinsAGGT ENSP00000406565.2:n.2432-3968_2432-3965delinsAGGT
ENST00000382292.7:c.10424_10427delinsAGGT ENSP00000371729.3:p.Glu3475=
ENST00000382298.7:c.10424_10427delinsAGGT ENSP00000371735.3:p.Glu3475=
ENST00000402364.1:c.8174_8177delinsAGGT ENSP00000385844.1:p.Glu2725=
ENST00000423156.1:c.1058-3968_1058-3965delinsAGGT ENSP00000390925.1:n.1058-3968_1058-3965delinsAGGT
ENST00000455470.5:c.2130-3968_2130-3965delinsAGGT
NM_001278055.1:c.9983_9986delinsAGGT NP_001264984.1:p.Glu3328=
NM_014363.5:c.10424_10427delinsAGGT NP_055178.3:p.Glu3475=
XM_005266338.1:c.10451_10454delinsAGGT XP_005266395.1:p.Glu3484=
XM_011535038.1:c.10475_10478delinsAGGT XP_011533340.1:p.Glu3492=
XM_011535039.1:c.10442_10445delinsAGGT XP_011533341.1:p.Glu3481=
XM_005266338.2:c.10451_10454delinsAGGT XP_005266395.1:p.Glu3484=
XM_011535039.2:c.10442_10445delinsAGGT XP_011533341.1:p.Glu3481=
XM_017020539.1:c.10415_10418delinsAGGT XP_016876028.1:p.Glu3472=
XM_024449337.1:c.10451_10454delinsAGGT XP_024305105.1:p.Glu3484=
NM_014363.6:c.10424_10427delinsAGGT MANE Select NP_055178.3:p.Glu3475=
NM_001278055.2:c.9983_9986delinsAGGT NP_001264984.1:p.Glu3328=