Canonical Allele Identifier: CA2622329013

Gene: SACS

Linked Data

• gnomAD v4: 13-23337267-T-TGCTCTAGGATCCCTTATTTTTAGTTTCTCATCGATAAGACTCAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337311_23337312insAGCTCTAGGATCCCTTATTTTTAGTTTCTCATCGATAAGACTCAA , CM000675.2:g.23337311_23337312insAGCTCTAGGATCCCTTATTTTTAGTTTCTCATCGATAAGACTCAA	GRCh38
NC_000013.10:g.23911450_23911451insAGCTCTAGGATCCCTTATTTTTAGTTTCTCATCGATAAGACTCAA , CM000675.1:g.23911450_23911451insAGCTCTAGGATCCCTTATTTTTAGTTTCTCATCGATAAGACTCAA	GRCh37
NC_000013.9:g.22809450_22809451insAGCTCTAGGATCCCTTATTTTTAGTTTCTCATCGATAAGACTCAA	NCBI36
NG_012342.1:g.101435_101436insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16517_2185+16518insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC	ENSP00000508399.1:n.2185+16517_2185+16518insTTTGAGTCTTATCGATG...
ENST00000682944.1:c.6635_6636insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC	ENSP00000507173.1:p.Ala2212_Lys2213insLeuSerLeuIleAspGluLysLe...
ENST00000683210.1:c.2185+16517_2185+16518insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC	ENSP00000506739.1:n.2185+16517_2185+16518insTTTGAGTCTTATCGATG...
ENST00000683270.1:c.6445+154_6445+155insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC	ENSP00000507624.1:n.6445+154_6445+155insTTTGAGTCTTATCGATGAGAA...
ENST00000683367.1:c.2177-7784_2177-7783insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC	ENSP00000507780.1:n.2177-7784_2177-7783insTTTGAGTCTTATCGATGAG...
ENST00000683489.1:c.2291+4317_2291+4318insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC	ENSP00000508403.1:n.2291+4317_2291+4318insTTTGAGTCTTATCGATGAG...
ENST00000683680.1:c.2318+4317_2318+4318insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC	ENSP00000507223.1:n.2318+4317_2318+4318insTTTGAGTCTTATCGATGAG...
ENST00000684163.1:c.2204-7784_2204-7783insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC	ENSP00000508262.1:n.2204-7784_2204-7783insTTTGAGTCTTATCGATGAG...
ENST00000684196.1:n.4543-7784_4543-7783insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC
ENST00000684325.1:c.2186-15594_2186-15593insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC	ENSP00000508121.1:n.2186-15594_2186-15593insTTTGAGTCTTATCGATG...
ENST00000684385.1:c.2221-7784_2221-7783insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC	ENSP00000507855.1:n.2221-7784_2221-7783insTTTGAGTCTTATCGATGAG...
ENST00000684497.1:c.2186-14624_2186-14623insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC	ENSP00000507057.1:n.2186-14624_2186-14623insTTTGAGTCTTATCGATG...
ENST00000382292.9:c.6608_6609insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC MANE Select	ENSP00000371729.3:p.Ala2203_Lys2204insLeuSerLeuIleAspGluLysLe...
ENST00000423156.2:c.2186-7784_2186-7783insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC	ENSP00000390925.2:n.2186-7784_2186-7783insTTTGAGTCTTATCGATGAG...
ENST00000455470.6:c.2431+4177_2431+4178insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC	ENSP00000406565.2:n.2431+4177_2431+4178insTTTGAGTCTTATCGATGAG...
ENST00000382292.7:c.6608_6609insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC	ENSP00000371729.3:p.Ala2203_Lys2204insLeuSerLeuIleAspGluLysLe...
ENST00000382298.7:c.6608_6609insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC	ENSP00000371735.3:p.Ala2203_Lys2204insLeuSerLeuIleAspGluLysLe...
ENST00000402364.1:c.4358_4359insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC	ENSP00000385844.1:p.Ala1453_Lys1454insLeuSerLeuIleAspGluLysLe...
ENST00000423156.1:c.1058-7784_1058-7783insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC	ENSP00000390925.1:n.1058-7784_1058-7783insTTTGAGTCTTATCGATGAG...
ENST00000455470.5:c.2129+4177_2129+4178insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC
NM_001278055.1:c.6167_6168insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC	NP_001264984.1:p.Ala2056_Lys2057insLeuSerLeuIleAspGluLysLeuLy...
NM_014363.5:c.6608_6609insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC	NP_055178.3:p.Ala2203_Lys2204insLeuSerLeuIleAspGluLysLeuLysIl...
XM_005266338.1:c.6635_6636insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC	XP_005266395.1:p.Ala2212_Lys2213insLeuSerLeuIleAspGluLysLeuLy...
XM_011535038.1:c.6659_6660insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC	XP_011533340.1:p.Ala2220_Lys2221insLeuSerLeuIleAspGluLysLeuLy...
XM_011535039.1:c.6626_6627insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC	XP_011533341.1:p.Ala2209_Lys2210insLeuSerLeuIleAspGluLysLeuLy...
XM_005266338.2:c.6635_6636insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC	XP_005266395.1:p.Ala2212_Lys2213insLeuSerLeuIleAspGluLysLeuLy...
XM_011535039.2:c.6626_6627insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC	XP_011533341.1:p.Ala2209_Lys2210insLeuSerLeuIleAspGluLysLeuLy...
XM_017020539.1:c.6599_6600insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC	XP_016876028.1:p.Ala2200_Lys2201insLeuSerLeuIleAspGluLysLeuLy...
XM_024449337.1:c.6635_6636insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC	XP_024305105.1:p.Ala2212_Lys2213insLeuSerLeuIleAspGluLysLeuLy...
NM_014363.6:c.6608_6609insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC MANE Select	NP_055178.3:p.Ala2203_Lys2204insLeuSerLeuIleAspGluLysLeuLysIl...
NM_001278055.2:c.6167_6168insTTTGAGTCTTATCGATGAGAAACTAAAAATAAGGGATCCTAGAGC	NP_001264984.1:p.Ala2056_Lys2057insLeuSerLeuIleAspGluLysLeuLy...