Canonical Allele Identifier: CA2580086898

Gene: SACS

Linked Data

• ClinVar Variation Id: 2115825
• ClinVar RCV Id: RCV003046652 ; RCV003465905
• gnomAD v4: 13-23334609-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334611del , CM000675.2:g.23334611del	GRCh38
NC_000013.10:g.23908750del , CM000675.1:g.23908750del	GRCh37
NC_000013.9:g.22806750del	NCBI36
NG_012342.1:g.104093del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19175del	ENSP00000508399.1:n.2185+19175del
ENST00000682944.1:c.9293del	ENSP00000507173.1:p.Pro3098LeufsTer5
ENST00000683210.1:c.2185+19175del	ENSP00000506739.1:n.2185+19175del
ENST00000683270.1:c.6445+2812del	ENSP00000507624.1:n.6445+2812del
ENST00000683367.1:c.2177-5126del	ENSP00000507780.1:n.2177-5126del
ENST00000683489.1:c.2292-4658del	ENSP00000508403.1:n.2292-4658del
ENST00000683680.1:c.2319-4658del	ENSP00000507223.1:n.2319-4658del
ENST00000684163.1:c.2204-5126del	ENSP00000508262.1:n.2204-5126del
ENST00000684196.1:n.4543-5126del
ENST00000684325.1:c.2186-12936del	ENSP00000508121.1:n.2186-12936del
ENST00000684385.1:c.2221-5126del	ENSP00000507855.1:n.2221-5126del
ENST00000684497.1:c.2186-11966del	ENSP00000507057.1:n.2186-11966del
ENST00000382292.9:c.9266del MANE Select	ENSP00000371729.3:p.Pro3089LeufsTer5
ENST00000423156.2:c.2186-5126del	ENSP00000390925.2:n.2186-5126del
ENST00000455470.6:c.2432-5126del	ENSP00000406565.2:n.2432-5126del
ENST00000382292.7:c.9266del	ENSP00000371729.3:p.Pro3089LeufsTer5
ENST00000382298.7:c.9266del	ENSP00000371735.3:p.Pro3089LeufsTer5
ENST00000402364.1:c.7016del	ENSP00000385844.1:p.Pro2339LeufsTer5
ENST00000423156.1:c.1058-5126del	ENSP00000390925.1:n.1058-5126del
ENST00000455470.5:c.2130-5126del
NM_001278055.1:c.8825del	NP_001264984.1:p.Pro2942LeufsTer5
NM_014363.5:c.9266del	NP_055178.3:p.Pro3089LeufsTer5
XM_005266338.1:c.9293del	XP_005266395.1:p.Pro3098LeufsTer5
XM_011535038.1:c.9317del	XP_011533340.1:p.Pro3106LeufsTer5
XM_011535039.1:c.9284del	XP_011533341.1:p.Pro3095LeufsTer5
XM_005266338.2:c.9293del	XP_005266395.1:p.Pro3098LeufsTer5
XM_011535039.2:c.9284del	XP_011533341.1:p.Pro3095LeufsTer5
XM_017020539.1:c.9257del	XP_016876028.1:p.Pro3086LeufsTer5
XM_024449337.1:c.9293del	XP_024305105.1:p.Pro3098LeufsTer5
NM_014363.6:c.9266del MANE Select	NP_055178.3:p.Pro3089LeufsTer5
NM_001278055.2:c.8825del	NP_001264984.1:p.Pro2942LeufsTer5