Canonical Allele Identifier: CA2622329033

Gene: SACS

Linked Data

• gnomAD v4: 13-23337582-A-AAT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337584_23337585dup , CM000675.2:g.23337584_23337585dup	GRCh38
NC_000013.10:g.23911723_23911724dup , CM000675.1:g.23911723_23911724dup	GRCh37
NC_000013.9:g.22809723_22809724dup	NCBI36
NG_012342.1:g.101119_101120dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16201_2185+16202dup	ENSP00000508399.1:n.2185+16201_2185+16202dup
ENST00000682944.1:c.6319_6320dup	ENSP00000507173.1:p.Pro2108PhefsTer16
ENST00000683210.1:c.2185+16201_2185+16202dup	ENSP00000506739.1:n.2185+16201_2185+16202dup
ENST00000683270.1:c.6283_6284dup	ENSP00000507624.1:p.Pro2096PhefsTer16
ENST00000683367.1:c.2177-8100_2177-8099dup	ENSP00000507780.1:n.2177-8100_2177-8099dup
ENST00000683489.1:c.2291+4001_2291+4002dup	ENSP00000508403.1:n.2291+4001_2291+4002dup
ENST00000683680.1:c.2318+4001_2318+4002dup	ENSP00000507223.1:n.2318+4001_2318+4002dup
ENST00000684163.1:c.2204-8100_2204-8099dup	ENSP00000508262.1:n.2204-8100_2204-8099dup
ENST00000684196.1:n.4543-8100_4543-8099dup
ENST00000684325.1:c.2186-15910_2186-15909dup	ENSP00000508121.1:n.2186-15910_2186-15909dup
ENST00000684385.1:c.2221-8100_2221-8099dup	ENSP00000507855.1:n.2221-8100_2221-8099dup
ENST00000684497.1:c.2186-14940_2186-14939dup	ENSP00000507057.1:n.2186-14940_2186-14939dup
ENST00000382292.9:c.6292_6293dup MANE Select	ENSP00000371729.3:p.Pro2099PhefsTer16
ENST00000423156.2:c.2186-8100_2186-8099dup	ENSP00000390925.2:n.2186-8100_2186-8099dup
ENST00000455470.6:c.2431+3861_2431+3862dup	ENSP00000406565.2:n.2431+3861_2431+3862dup
ENST00000382292.7:c.6292_6293dup	ENSP00000371729.3:p.Pro2099PhefsTer16
ENST00000382298.7:c.6292_6293dup	ENSP00000371735.3:p.Pro2099PhefsTer16
ENST00000402364.1:c.4042_4043dup	ENSP00000385844.1:p.Pro1349PhefsTer16
ENST00000423156.1:c.1058-8100_1058-8099dup	ENSP00000390925.1:n.1058-8100_1058-8099dup
ENST00000455470.5:c.2129+3861_2129+3862dup
NM_001278055.1:c.5851_5852dup	NP_001264984.1:p.Pro1952PhefsTer16
NM_014363.5:c.6292_6293dup	NP_055178.3:p.Pro2099PhefsTer16
XM_005266338.1:c.6319_6320dup	XP_005266395.1:p.Pro2108PhefsTer16
XM_011535038.1:c.6343_6344dup	XP_011533340.1:p.Pro2116PhefsTer16
XM_011535039.1:c.6310_6311dup	XP_011533341.1:p.Pro2105PhefsTer16
XM_005266338.2:c.6319_6320dup	XP_005266395.1:p.Pro2108PhefsTer16
XM_011535039.2:c.6310_6311dup	XP_011533341.1:p.Pro2105PhefsTer16
XM_017020539.1:c.6283_6284dup	XP_016876028.1:p.Pro2096PhefsTer16
XM_024449337.1:c.6319_6320dup	XP_024305105.1:p.Pro2108PhefsTer16
NM_014363.6:c.6292_6293dup MANE Select	NP_055178.3:p.Pro2099PhefsTer16
NM_001278055.2:c.5851_5852dup	NP_001264984.1:p.Pro1952PhefsTer16