Canonical Allele Identifier: CA2622328951

Gene: SACS

Linked Data

• gnomAD v4: 13-23335006-T-TAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335006_23335007insAAA , CM000675.2:g.23335006_23335007insAAA	GRCh38
NC_000013.10:g.23909145_23909146insAAA , CM000675.1:g.23909145_23909146insAAA	GRCh37
NC_000013.9:g.22807145_22807146insAAA	NCBI36
NG_012342.1:g.103696_103697insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18778_2185+18779insTTT	ENSP00000508399.1:n.2185+18778_2185+18779insTTT
ENST00000682944.1:c.8896_8897insTTT	ENSP00000507173.1:p.Lys2966IlefsTer2
ENST00000683210.1:c.2185+18778_2185+18779insTTT	ENSP00000506739.1:n.2185+18778_2185+18779insTTT
ENST00000683270.1:c.6445+2415_6445+2416insTTT	ENSP00000507624.1:n.6445+2415_6445+2416insTTT
ENST00000683367.1:c.2177-5523_2177-5522insTTT	ENSP00000507780.1:n.2177-5523_2177-5522insTTT
ENST00000683489.1:c.2292-5055_2292-5054insTTT	ENSP00000508403.1:n.2292-5055_2292-5054insTTT
ENST00000683680.1:c.2319-5055_2319-5054insTTT	ENSP00000507223.1:n.2319-5055_2319-5054insTTT
ENST00000684163.1:c.2204-5523_2204-5522insTTT	ENSP00000508262.1:n.2204-5523_2204-5522insTTT
ENST00000684196.1:n.4543-5523_4543-5522insTTT
ENST00000684325.1:c.2186-13333_2186-13332insTTT	ENSP00000508121.1:n.2186-13333_2186-13332insTTT
ENST00000684385.1:c.2221-5523_2221-5522insTTT	ENSP00000507855.1:n.2221-5523_2221-5522insTTT
ENST00000684497.1:c.2186-12363_2186-12362insTTT	ENSP00000507057.1:n.2186-12363_2186-12362insTTT
ENST00000382292.9:c.8869_8870insTTT MANE Select	ENSP00000371729.3:p.Lys2957IlefsTer2
ENST00000423156.2:c.2186-5523_2186-5522insTTT	ENSP00000390925.2:n.2186-5523_2186-5522insTTT
ENST00000455470.6:c.2432-5523_2432-5522insTTT	ENSP00000406565.2:n.2432-5523_2432-5522insTTT
ENST00000382292.7:c.8869_8870insTTT	ENSP00000371729.3:p.Lys2957IlefsTer2
ENST00000382298.7:c.8869_8870insTTT	ENSP00000371735.3:p.Lys2957IlefsTer2
ENST00000402364.1:c.6619_6620insTTT	ENSP00000385844.1:p.Lys2207IlefsTer2
ENST00000423156.1:c.1058-5523_1058-5522insTTT	ENSP00000390925.1:n.1058-5523_1058-5522insTTT
ENST00000455470.5:c.2130-5523_2130-5522insTTT
NM_001278055.1:c.8428_8429insTTT	NP_001264984.1:p.Lys2810IlefsTer2
NM_014363.5:c.8869_8870insTTT	NP_055178.3:p.Lys2957IlefsTer2
XM_005266338.1:c.8896_8897insTTT	XP_005266395.1:p.Lys2966IlefsTer2
XM_011535038.1:c.8920_8921insTTT	XP_011533340.1:p.Lys2974IlefsTer2
XM_011535039.1:c.8887_8888insTTT	XP_011533341.1:p.Lys2963IlefsTer2
XM_005266338.2:c.8896_8897insTTT	XP_005266395.1:p.Lys2966IlefsTer2
XM_011535039.2:c.8887_8888insTTT	XP_011533341.1:p.Lys2963IlefsTer2
XM_017020539.1:c.8860_8861insTTT	XP_016876028.1:p.Lys2954IlefsTer2
XM_024449337.1:c.8896_8897insTTT	XP_024305105.1:p.Lys2966IlefsTer2
NM_014363.6:c.8869_8870insTTT MANE Select	NP_055178.3:p.Lys2957IlefsTer2
NM_001278055.2:c.8428_8429insTTT	NP_001264984.1:p.Lys2810IlefsTer2