Canonical Allele Identifier: CA2622329002

Gene: SACS

Linked Data

• gnomAD v4: 13-23336131-G-GGGGCCCACTTATCATCAAATATTCTATC

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336132_23336159dup , CM000675.2:g.23336132_23336159dup	GRCh38
NC_000013.10:g.23910271_23910298dup , CM000675.1:g.23910271_23910298dup	GRCh37
NC_000013.9:g.22808271_22808298dup	NCBI36
NG_012342.1:g.102544_102571dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+17626_2185+17653dup	ENSP00000508399.1:n.2185+17626_2185+17653...
ENST00000682944.1:c.7744_7771dup	ENSP00000507173.1:p.Pro2591ArgfsTer2
ENST00000683210.1:c.2185+17626_2185+17653dup	ENSP00000506739.1:n.2185+17626_2185+17653...
ENST00000683270.1:c.6445+1263_6445+1290dup	ENSP00000507624.1:n.6445+1263_6445+1290du...
ENST00000683367.1:c.2177-6675_2177-6648dup	ENSP00000507780.1:n.2177-6675_2177-6648du...
ENST00000683489.1:c.2291+5426_2291+5453dup	ENSP00000508403.1:n.2291+5426_2291+5453du...
ENST00000683680.1:c.2318+5426_2318+5453dup	ENSP00000507223.1:n.2318+5426_2318+5453du...
ENST00000684163.1:c.2204-6675_2204-6648dup	ENSP00000508262.1:n.2204-6675_2204-6648du...
ENST00000684196.1:n.4543-6675_4543-6648dup
ENST00000684325.1:c.2186-14485_2186-14458dup	ENSP00000508121.1:n.2186-14485_2186-14458...
ENST00000684385.1:c.2221-6675_2221-6648dup	ENSP00000507855.1:n.2221-6675_2221-6648du...
ENST00000684497.1:c.2186-13515_2186-13488dup	ENSP00000507057.1:n.2186-13515_2186-13488...
ENST00000382292.9:c.7717_7744dup MANE Select	ENSP00000371729.3:p.Pro2582ArgfsTer2
ENST00000423156.2:c.2186-6675_2186-6648dup	ENSP00000390925.2:n.2186-6675_2186-6648du...
ENST00000455470.6:c.2431+5286_2431+5313dup	ENSP00000406565.2:n.2431+5286_2431+5313du...
ENST00000382292.7:c.7717_7744dup	ENSP00000371729.3:p.Pro2582ArgfsTer2
ENST00000382298.7:c.7717_7744dup	ENSP00000371735.3:p.Pro2582ArgfsTer2
ENST00000402364.1:c.5467_5494dup	ENSP00000385844.1:p.Pro1832ArgfsTer2
ENST00000423156.1:c.1058-6675_1058-6648dup	ENSP00000390925.1:n.1058-6675_1058-6648du...
ENST00000455470.5:c.2129+5286_2129+5313dup
NM_001278055.1:c.7276_7303dup	NP_001264984.1:p.Pro2435ArgfsTer2
NM_014363.5:c.7717_7744dup	NP_055178.3:p.Pro2582ArgfsTer2
XM_005266338.1:c.7744_7771dup	XP_005266395.1:p.Pro2591ArgfsTer2
XM_011535038.1:c.7768_7795dup	XP_011533340.1:p.Pro2599ArgfsTer2
XM_011535039.1:c.7735_7762dup	XP_011533341.1:p.Pro2588ArgfsTer2
XM_005266338.2:c.7744_7771dup	XP_005266395.1:p.Pro2591ArgfsTer2
XM_011535039.2:c.7735_7762dup	XP_011533341.1:p.Pro2588ArgfsTer2
XM_017020539.1:c.7708_7735dup	XP_016876028.1:p.Pro2579ArgfsTer2
XM_024449337.1:c.7744_7771dup	XP_024305105.1:p.Pro2591ArgfsTer2
NM_014363.6:c.7717_7744dup MANE Select	NP_055178.3:p.Pro2582ArgfsTer2
NM_001278055.2:c.7276_7303dup	NP_001264984.1:p.Pro2435ArgfsTer2