Canonical Allele Identifier: CA2550330222
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334137_23334138insCTTTT , CM000675.2:g.23334137_23334138insCTTTT GRCh38
NC_000013.10:g.23908276_23908277insCTTTT , CM000675.1:g.23908276_23908277insCTTTT GRCh37
NC_000013.9:g.22806276_22806277insCTTTT NCBI36
NG_012342.1:g.104565_104566insAAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+19647_2185+19648insAAAAG ENSP00000508399.1:n.2185+19647_2185+19648insAAAAG
ENST00000682944.1:c.9765_9766insAAAAG ENSP00000507173.1:p.Ala3256LysfsTer11
ENST00000683210.1:c.2185+19647_2185+19648insAAAAG ENSP00000506739.1:n.2185+19647_2185+19648insAAAAG
ENST00000683270.1:c.6445+3284_6445+3285insAAAAG ENSP00000507624.1:n.6445+3284_6445+3285insAAAAG
ENST00000683367.1:c.2177-4654_2177-4653insAAAAG ENSP00000507780.1:n.2177-4654_2177-4653insAAAAG
ENST00000683489.1:c.2292-4186_2292-4185insAAAAG ENSP00000508403.1:n.2292-4186_2292-4185insAAAAG
ENST00000683680.1:c.2319-4186_2319-4185insAAAAG ENSP00000507223.1:n.2319-4186_2319-4185insAAAAG
ENST00000684163.1:c.2204-4654_2204-4653insAAAAG ENSP00000508262.1:n.2204-4654_2204-4653insAAAAG
ENST00000684196.1:n.4543-4654_4543-4653insAAAAG
ENST00000684325.1:c.2186-12464_2186-12463insAAAAG ENSP00000508121.1:n.2186-12464_2186-12463insAAAAG
ENST00000684385.1:c.2221-4654_2221-4653insAAAAG ENSP00000507855.1:n.2221-4654_2221-4653insAAAAG
ENST00000684497.1:c.2186-11494_2186-11493insAAAAG ENSP00000507057.1:n.2186-11494_2186-11493insAAAAG
ENST00000382292.9:c.9738_9739insAAAAG MANE Select ENSP00000371729.3:p.Ala3247LysfsTer11
ENST00000423156.2:c.2186-4654_2186-4653insAAAAG ENSP00000390925.2:n.2186-4654_2186-4653insAAAAG
ENST00000455470.6:c.2432-4654_2432-4653insAAAAG ENSP00000406565.2:n.2432-4654_2432-4653insAAAAG
ENST00000382292.7:c.9738_9739insAAAAG ENSP00000371729.3:p.Ala3247LysfsTer11
ENST00000382298.7:c.9738_9739insAAAAG ENSP00000371735.3:p.Ala3247LysfsTer11
ENST00000402364.1:c.7488_7489insAAAAG ENSP00000385844.1:p.Ala2497LysfsTer11
ENST00000423156.1:c.1058-4654_1058-4653insAAAAG ENSP00000390925.1:n.1058-4654_1058-4653insAAAAG
ENST00000455470.5:c.2130-4654_2130-4653insAAAAG
NM_001278055.1:c.9297_9298insAAAAG NP_001264984.1:p.Ala3100LysfsTer11
NM_014363.5:c.9738_9739insAAAAG NP_055178.3:p.Ala3247LysfsTer11
XM_005266338.1:c.9765_9766insAAAAG XP_005266395.1:p.Ala3256LysfsTer11
XM_011535038.1:c.9789_9790insAAAAG XP_011533340.1:p.Ala3264LysfsTer11
XM_011535039.1:c.9756_9757insAAAAG XP_011533341.1:p.Ala3253LysfsTer11
XM_005266338.2:c.9765_9766insAAAAG XP_005266395.1:p.Ala3256LysfsTer11
XM_011535039.2:c.9756_9757insAAAAG XP_011533341.1:p.Ala3253LysfsTer11
XM_017020539.1:c.9729_9730insAAAAG XP_016876028.1:p.Ala3244LysfsTer11
XM_024449337.1:c.9765_9766insAAAAG XP_024305105.1:p.Ala3256LysfsTer11
NM_014363.6:c.9738_9739insAAAAG MANE Select NP_055178.3:p.Ala3247LysfsTer11
NM_001278055.2:c.9297_9298insAAAAG NP_001264984.1:p.Ala3100LysfsTer11