Canonical Allele Identifier: CA2622329039

Gene: SACS

Linked Data

• gnomAD v4: 13-23337725-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337729_23337730del , CM000675.2:g.23337729_23337730del	GRCh38
NC_000013.10:g.23911868_23911869del , CM000675.1:g.23911868_23911869del	GRCh37
NC_000013.9:g.22809868_22809869del	NCBI36
NG_012342.1:g.100976_100977del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16058_2185+16059del	ENSP00000508399.1:n.2185+16058_2185+16059del
ENST00000682944.1:c.6176_6177del	ENSP00000507173.1:p.Thr2059IlefsTer9
ENST00000683210.1:c.2185+16058_2185+16059del	ENSP00000506739.1:n.2185+16058_2185+16059del
ENST00000683270.1:c.6140_6141del	ENSP00000507624.1:p.Thr2047IlefsTer9
ENST00000683367.1:c.2177-8243_2177-8242del	ENSP00000507780.1:n.2177-8243_2177-8242del
ENST00000683489.1:c.2291+3858_2291+3859del	ENSP00000508403.1:n.2291+3858_2291+3859del
ENST00000683680.1:c.2318+3858_2318+3859del	ENSP00000507223.1:n.2318+3858_2318+3859del
ENST00000684163.1:c.2204-8243_2204-8242del	ENSP00000508262.1:n.2204-8243_2204-8242del
ENST00000684196.1:n.4543-8243_4543-8242del
ENST00000684325.1:c.2186-16053_2186-16052del	ENSP00000508121.1:n.2186-16053_2186-16052del
ENST00000684385.1:c.2221-8243_2221-8242del	ENSP00000507855.1:n.2221-8243_2221-8242del
ENST00000684497.1:c.2186-15083_2186-15082del	ENSP00000507057.1:n.2186-15083_2186-15082del
ENST00000382292.9:c.6149_6150del MANE Select	ENSP00000371729.3:p.Thr2050IlefsTer9
ENST00000423156.2:c.2186-8243_2186-8242del	ENSP00000390925.2:n.2186-8243_2186-8242del
ENST00000455470.6:c.2431+3718_2431+3719del	ENSP00000406565.2:n.2431+3718_2431+3719del
ENST00000382292.7:c.6149_6150del	ENSP00000371729.3:p.Thr2050IlefsTer9
ENST00000382298.7:c.6149_6150del	ENSP00000371735.3:p.Thr2050IlefsTer9
ENST00000402364.1:c.3899_3900del	ENSP00000385844.1:p.Thr1300IlefsTer9
ENST00000423156.1:c.1058-8243_1058-8242del	ENSP00000390925.1:n.1058-8243_1058-8242del
ENST00000455470.5:c.2129+3718_2129+3719del
NM_001278055.1:c.5708_5709del	NP_001264984.1:p.Thr1903IlefsTer9
NM_014363.5:c.6149_6150del	NP_055178.3:p.Thr2050IlefsTer9
XM_005266338.1:c.6176_6177del	XP_005266395.1:p.Thr2059IlefsTer9
XM_011535038.1:c.6200_6201del	XP_011533340.1:p.Thr2067IlefsTer9
XM_011535039.1:c.6167_6168del	XP_011533341.1:p.Thr2056IlefsTer9
XM_005266338.2:c.6176_6177del	XP_005266395.1:p.Thr2059IlefsTer9
XM_011535039.2:c.6167_6168del	XP_011533341.1:p.Thr2056IlefsTer9
XM_017020539.1:c.6140_6141del	XP_016876028.1:p.Thr2047IlefsTer9
XM_024449337.1:c.6176_6177del	XP_024305105.1:p.Thr2059IlefsTer9
NM_014363.6:c.6149_6150del MANE Select	NP_055178.3:p.Thr2050IlefsTer9
NM_001278055.2:c.5708_5709del	NP_001264984.1:p.Thr1903IlefsTer9