Canonical Allele Identifier: CA2798500443

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335896_23335897insTT , CM000675.2:g.23335896_23335897insTT	GRCh38
NC_000013.10:g.23910035_23910036insTT , CM000675.1:g.23910035_23910036insTT	GRCh37
NC_000013.9:g.22808035_22808036insTT	NCBI36
NG_012342.1:g.102806_102807insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17888_2185+17889insAA	ENSP00000508399.1:n.2185+17888_2185+17889insAA
ENST00000682944.1:c.8006_8007insAA	ENSP00000507173.1:p.Ile2670ThrfsTer?
ENST00000683210.1:c.2185+17888_2185+17889insAA	ENSP00000506739.1:n.2185+17888_2185+17889insAA
ENST00000683270.1:c.6445+1525_6445+1526insAA	ENSP00000507624.1:n.6445+1525_6445+1526insAA
ENST00000683367.1:c.2177-6413_2177-6412insAA	ENSP00000507780.1:n.2177-6413_2177-6412insAA
ENST00000683489.1:c.2291+5688_2291+5689insAA	ENSP00000508403.1:n.2291+5688_2291+5689insAA
ENST00000683680.1:c.2318+5688_2318+5689insAA	ENSP00000507223.1:n.2318+5688_2318+5689insAA
ENST00000684163.1:c.2204-6413_2204-6412insAA	ENSP00000508262.1:n.2204-6413_2204-6412insAA
ENST00000684196.1:n.4543-6413_4543-6412insAA
ENST00000684325.1:c.2186-14223_2186-14222insAA	ENSP00000508121.1:n.2186-14223_2186-14222insAA
ENST00000684385.1:c.2221-6413_2221-6412insAA	ENSP00000507855.1:n.2221-6413_2221-6412insAA
ENST00000684497.1:c.2186-13253_2186-13252insAA	ENSP00000507057.1:n.2186-13253_2186-13252insAA
ENST00000382292.9:c.7979_7980insAA MANE Select	ENSP00000371729.3:p.Ile2661ThrfsTer?
ENST00000423156.2:c.2186-6413_2186-6412insAA	ENSP00000390925.2:n.2186-6413_2186-6412insAA
ENST00000455470.6:c.2431+5548_2431+5549insAA	ENSP00000406565.2:n.2431+5548_2431+5549insAA
ENST00000382292.7:c.7979_7980insAA	ENSP00000371729.3:p.Ile2661ThrfsTer?
ENST00000382298.7:c.7979_7980insAA	ENSP00000371735.3:p.Ile2661ThrfsTer?
ENST00000402364.1:c.5729_5730insAA	ENSP00000385844.1:p.Ile1911ThrfsTer?
ENST00000423156.1:c.1058-6413_1058-6412insAA	ENSP00000390925.1:n.1058-6413_1058-6412insAA
ENST00000455470.5:c.2129+5548_2129+5549insAA
NM_001278055.1:c.7538_7539insAA	NP_001264984.1:p.Ile2514ThrfsTer?
NM_014363.5:c.7979_7980insAA	NP_055178.3:p.Ile2661ThrfsTer?
XM_005266338.1:c.8006_8007insAA	XP_005266395.1:p.Ile2670ThrfsTer?
XM_011535038.1:c.8030_8031insAA	XP_011533340.1:p.Ile2678ThrfsTer?
XM_011535039.1:c.7997_7998insAA	XP_011533341.1:p.Ile2667ThrfsTer?
XM_005266338.2:c.8006_8007insAA	XP_005266395.1:p.Ile2670ThrfsTer?
XM_011535039.2:c.7997_7998insAA	XP_011533341.1:p.Ile2667ThrfsTer?
XM_017020539.1:c.7970_7971insAA	XP_016876028.1:p.Ile2658ThrfsTer?
XM_024449337.1:c.8006_8007insAA	XP_024305105.1:p.Ile2670ThrfsTer?
NM_014363.6:c.7979_7980insAA MANE Select	NP_055178.3:p.Ile2661ThrfsTer?
NM_001278055.2:c.7538_7539insAA	NP_001264984.1:p.Ile2514ThrfsTer?