Canonical Allele Identifier: CA2622328939

Gene: SACS

Linked Data

• gnomAD v4: 13-23334609-AGGAATAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334610_23334616del , CM000675.2:g.23334610_23334616del	GRCh38
NC_000013.10:g.23908749_23908755del , CM000675.1:g.23908749_23908755del	GRCh37
NC_000013.9:g.22806749_22806755del	NCBI36
NG_012342.1:g.104087_104093del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19169_2185+19175del	ENSP00000508399.1:n.2185+19169_2185+19175del
ENST00000682944.1:c.9287_9293del	ENSP00000507173.1:p.Asp3096ValfsTer5
ENST00000683210.1:c.2185+19169_2185+19175del	ENSP00000506739.1:n.2185+19169_2185+19175del
ENST00000683270.1:c.6445+2806_6445+2812del	ENSP00000507624.1:n.6445+2806_6445+2812del
ENST00000683367.1:c.2177-5132_2177-5126del	ENSP00000507780.1:n.2177-5132_2177-5126del
ENST00000683489.1:c.2292-4664_2292-4658del	ENSP00000508403.1:n.2292-4664_2292-4658del
ENST00000683680.1:c.2319-4664_2319-4658del	ENSP00000507223.1:n.2319-4664_2319-4658del
ENST00000684163.1:c.2204-5132_2204-5126del	ENSP00000508262.1:n.2204-5132_2204-5126del
ENST00000684196.1:n.4543-5132_4543-5126del
ENST00000684325.1:c.2186-12942_2186-12936del	ENSP00000508121.1:n.2186-12942_2186-12936del
ENST00000684385.1:c.2221-5132_2221-5126del	ENSP00000507855.1:n.2221-5132_2221-5126del
ENST00000684497.1:c.2186-11972_2186-11966del	ENSP00000507057.1:n.2186-11972_2186-11966del
ENST00000382292.9:c.9260_9266del MANE Select	ENSP00000371729.3:p.Asp3087ValfsTer5
ENST00000423156.2:c.2186-5132_2186-5126del	ENSP00000390925.2:n.2186-5132_2186-5126del
ENST00000455470.6:c.2432-5132_2432-5126del	ENSP00000406565.2:n.2432-5132_2432-5126del
ENST00000382292.7:c.9260_9266del	ENSP00000371729.3:p.Asp3087ValfsTer5
ENST00000382298.7:c.9260_9266del	ENSP00000371735.3:p.Asp3087ValfsTer5
ENST00000402364.1:c.7010_7016del	ENSP00000385844.1:p.Asp2337ValfsTer5
ENST00000423156.1:c.1058-5132_1058-5126del	ENSP00000390925.1:n.1058-5132_1058-5126del
ENST00000455470.5:c.2130-5132_2130-5126del
NM_001278055.1:c.8819_8825del	NP_001264984.1:p.Asp2940ValfsTer5
NM_014363.5:c.9260_9266del	NP_055178.3:p.Asp3087ValfsTer5
XM_005266338.1:c.9287_9293del	XP_005266395.1:p.Asp3096ValfsTer5
XM_011535038.1:c.9311_9317del	XP_011533340.1:p.Asp3104ValfsTer5
XM_011535039.1:c.9278_9284del	XP_011533341.1:p.Asp3093ValfsTer5
XM_005266338.2:c.9287_9293del	XP_005266395.1:p.Asp3096ValfsTer5
XM_011535039.2:c.9278_9284del	XP_011533341.1:p.Asp3093ValfsTer5
XM_017020539.1:c.9251_9257del	XP_016876028.1:p.Asp3084ValfsTer5
XM_024449337.1:c.9287_9293del	XP_024305105.1:p.Asp3096ValfsTer5
NM_014363.6:c.9260_9266del MANE Select	NP_055178.3:p.Asp3087ValfsTer5
NM_001278055.2:c.8819_8825del	NP_001264984.1:p.Asp2940ValfsTer5