Canonical Allele Identifier: CA2622329068

Gene: SACS

Linked Data

• gnomAD v4: 13-23338531-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338531_23338532insT , CM000675.2:g.23338531_23338532insT	GRCh38
NC_000013.10:g.23912670_23912671insT , CM000675.1:g.23912670_23912671insT	GRCh37
NC_000013.9:g.22810670_22810671insT	NCBI36
NG_012342.1:g.100171_100172insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15253_2185+15254insA	ENSP00000508399.1:n.2185+15253_2185+15254insA
ENST00000682944.1:c.5371_5372insA	ENSP00000507173.1:p.Phe1791TyrfsTer2
ENST00000683210.1:c.2185+15253_2185+15254insA	ENSP00000506739.1:n.2185+15253_2185+15254insA
ENST00000683270.1:c.5335_5336insA	ENSP00000507624.1:p.Phe1779TyrfsTer2
ENST00000683367.1:c.2177-9048_2177-9047insA	ENSP00000507780.1:n.2177-9048_2177-9047insA
ENST00000683489.1:c.2291+3053_2291+3054insA	ENSP00000508403.1:n.2291+3053_2291+3054insA
ENST00000683680.1:c.2318+3053_2318+3054insA	ENSP00000507223.1:n.2318+3053_2318+3054insA
ENST00000684163.1:c.2203+8279_2203+8280insA	ENSP00000508262.1:n.2203+8279_2203+8280insA
ENST00000684196.1:n.4543-9048_4543-9047insA
ENST00000684325.1:c.2185+15253_2185+15254insA	ENSP00000508121.1:n.2185+15253_2185+15254insA
ENST00000684385.1:c.2220+8279_2220+8280insA	ENSP00000507855.1:n.2220+8279_2220+8280insA
ENST00000684497.1:c.2185+15253_2185+15254insA	ENSP00000507057.1:n.2185+15253_2185+15254insA
ENST00000382292.9:c.5344_5345insA MANE Select	ENSP00000371729.3:p.Phe1782TyrfsTer2
ENST00000423156.2:c.2186-9048_2186-9047insA	ENSP00000390925.2:n.2186-9048_2186-9047insA
ENST00000455470.6:c.2431+2913_2431+2914insA	ENSP00000406565.2:n.2431+2913_2431+2914insA
ENST00000382292.7:c.5344_5345insA	ENSP00000371729.3:p.Phe1782TyrfsTer2
ENST00000382298.7:c.5344_5345insA	ENSP00000371735.3:p.Phe1782TyrfsTer2
ENST00000402364.1:c.3094_3095insA	ENSP00000385844.1:p.Phe1032TyrfsTer2
ENST00000423156.1:c.1058-9048_1058-9047insA	ENSP00000390925.1:n.1058-9048_1058-9047insA
ENST00000455470.5:c.2129+2913_2129+2914insA
NM_001278055.1:c.4903_4904insA	NP_001264984.1:p.Phe1635TyrfsTer2
NM_014363.5:c.5344_5345insA	NP_055178.3:p.Phe1782TyrfsTer2
XM_005266338.1:c.5371_5372insA	XP_005266395.1:p.Phe1791TyrfsTer2
XM_011535038.1:c.5395_5396insA	XP_011533340.1:p.Phe1799TyrfsTer2
XM_011535039.1:c.5362_5363insA	XP_011533341.1:p.Phe1788TyrfsTer2
XM_005266338.2:c.5371_5372insA	XP_005266395.1:p.Phe1791TyrfsTer2
XM_011535039.2:c.5362_5363insA	XP_011533341.1:p.Phe1788TyrfsTer2
XM_017020539.1:c.5335_5336insA	XP_016876028.1:p.Phe1779TyrfsTer2
XM_024449337.1:c.5371_5372insA	XP_024305105.1:p.Phe1791TyrfsTer2
NM_014363.6:c.5344_5345insA MANE Select	NP_055178.3:p.Phe1782TyrfsTer2
NM_001278055.2:c.4903_4904insA	NP_001264984.1:p.Phe1635TyrfsTer2