Canonical Allele Identifier: CA2622328942

Gene: SACS

Linked Data

• gnomAD v4: 13-23333407-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333408_23333409del , CM000675.2:g.23333408_23333409del	GRCh38
NC_000013.10:g.23907547_23907548del , CM000675.1:g.23907547_23907548del	GRCh37
NC_000013.9:g.22805547_22805548del	NCBI36
NG_012342.1:g.105294_105295del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20376_2185+20377del	ENSP00000508399.1:n.2185+20376_2185+20377del
ENST00000682944.1:c.10494_10495del	ENSP00000507173.1:p.Tyr3499Ter
ENST00000683210.1:c.2185+20376_2185+20377del	ENSP00000506739.1:n.2185+20376_2185+20377del
ENST00000683270.1:c.6446-3925_6446-3924del	ENSP00000507624.1:n.6446-3925_6446-3924del
ENST00000683367.1:c.2177-3925_2177-3924del	ENSP00000507780.1:n.2177-3925_2177-3924del
ENST00000683489.1:c.2292-3457_2292-3456del	ENSP00000508403.1:n.2292-3457_2292-3456del
ENST00000683680.1:c.2319-3457_2319-3456del	ENSP00000507223.1:n.2319-3457_2319-3456del
ENST00000684163.1:c.2204-3925_2204-3924del	ENSP00000508262.1:n.2204-3925_2204-3924del
ENST00000684196.1:n.4543-3925_4543-3924del
ENST00000684325.1:c.2186-11735_2186-11734del	ENSP00000508121.1:n.2186-11735_2186-11734del
ENST00000684385.1:c.2221-3925_2221-3924del	ENSP00000507855.1:n.2221-3925_2221-3924del
ENST00000684497.1:c.2186-10765_2186-10764del	ENSP00000507057.1:n.2186-10765_2186-10764del
ENST00000382292.9:c.10467_10468del MANE Select	ENSP00000371729.3:p.Tyr3490Ter
ENST00000423156.2:c.2186-3925_2186-3924del	ENSP00000390925.2:n.2186-3925_2186-3924del
ENST00000455470.6:c.2432-3925_2432-3924del	ENSP00000406565.2:n.2432-3925_2432-3924del
ENST00000382292.7:c.10467_10468del	ENSP00000371729.3:p.Tyr3490Ter
ENST00000382298.7:c.10467_10468del	ENSP00000371735.3:p.Tyr3490Ter
ENST00000402364.1:c.8217_8218del	ENSP00000385844.1:p.Tyr2740Ter
ENST00000423156.1:c.1058-3925_1058-3924del	ENSP00000390925.1:n.1058-3925_1058-3924del
ENST00000455470.5:c.2130-3925_2130-3924del
NM_001278055.1:c.10026_10027del	NP_001264984.1:p.Tyr3343Ter
NM_014363.5:c.10467_10468del	NP_055178.3:p.Tyr3490Ter
XM_005266338.1:c.10494_10495del	XP_005266395.1:p.Tyr3499Ter
XM_011535038.1:c.10518_10519del	XP_011533340.1:p.Tyr3507Ter
XM_011535039.1:c.10485_10486del	XP_011533341.1:p.Tyr3496Ter
XM_005266338.2:c.10494_10495del	XP_005266395.1:p.Tyr3499Ter
XM_011535039.2:c.10485_10486del	XP_011533341.1:p.Tyr3496Ter
XM_017020539.1:c.10458_10459del	XP_016876028.1:p.Tyr3487Ter
XM_024449337.1:c.10494_10495del	XP_024305105.1:p.Tyr3499Ter
NM_014363.6:c.10467_10468del MANE Select	NP_055178.3:p.Tyr3490Ter
NM_001278055.2:c.10026_10027del	NP_001264984.1:p.Tyr3343Ter