Canonical Allele Identifier: CA2622328868

Gene: SACS

Linked Data

• gnomAD v4: 13-23331051-GCTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331054_23331056del , CM000675.2:g.23331054_23331056del	GRCh38
NC_000013.10:g.23905193_23905195del , CM000675.1:g.23905193_23905195del	GRCh37
NC_000013.9:g.22803193_22803195del	NCBI36
NG_012342.1:g.107649_107651del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18939_2186-18937del	ENSP00000508399.1:n.2186-18939_2186-18937del
ENST00000682944.1:c.12849_12851del	ENSP00000507173.1:p.Arg4283del
ENST00000683210.1:c.2185+22731_2185+22733del	ENSP00000506739.1:n.2185+22731_2185+22733del
ENST00000683270.1:c.6446-1570_6446-1568del	ENSP00000507624.1:n.6446-1570_6446-1568del
ENST00000683367.1:c.2177-1570_2177-1568del	ENSP00000507780.1:n.2177-1570_2177-1568del
ENST00000683489.1:c.2292-1102_2292-1100del	ENSP00000508403.1:n.2292-1102_2292-1100del
ENST00000683680.1:c.2319-1102_2319-1100del	ENSP00000507223.1:n.2319-1102_2319-1100del
ENST00000684163.1:c.2204-1570_2204-1568del	ENSP00000508262.1:n.2204-1570_2204-1568del
ENST00000684196.1:n.4543-1570_4543-1568del
ENST00000684325.1:c.2186-9380_2186-9378del	ENSP00000508121.1:n.2186-9380_2186-9378del
ENST00000684385.1:c.2221-1570_2221-1568del	ENSP00000507855.1:n.2221-1570_2221-1568del
ENST00000684497.1:c.2186-8410_2186-8408del	ENSP00000507057.1:n.2186-8410_2186-8408del
ENST00000382292.9:c.12822_12824del MANE Select	ENSP00000371729.3:p.Arg4274del
ENST00000423156.2:c.2186-1570_2186-1568del	ENSP00000390925.2:n.2186-1570_2186-1568del
ENST00000455470.6:c.2432-1570_2432-1568del	ENSP00000406565.2:n.2432-1570_2432-1568del
ENST00000382292.7:c.12822_12824del	ENSP00000371729.3:p.Arg4274del
ENST00000382298.7:c.12822_12824del	ENSP00000371735.3:p.Arg4274del
ENST00000402364.1:c.10572_10574del	ENSP00000385844.1:p.Arg3524del
ENST00000423156.1:c.1058-1570_1058-1568del	ENSP00000390925.1:n.1058-1570_1058-1568del
ENST00000455470.5:c.2130-1570_2130-1568del
NM_001278055.1:c.12381_12383del	NP_001264984.1:p.Arg4127del
NM_014363.5:c.12822_12824del	NP_055178.3:p.Arg4274del
XM_005266338.1:c.12849_12851del	XP_005266395.1:p.Arg4283del
XM_011535038.1:c.12873_12875del	XP_011533340.1:p.Arg4291del
XM_011535039.1:c.12840_12842del	XP_011533341.1:p.Arg4280del
XM_005266338.2:c.12849_12851del	XP_005266395.1:p.Arg4283del
XM_011535039.2:c.12840_12842del	XP_011533341.1:p.Arg4280del
XM_017020539.1:c.12813_12815del	XP_016876028.1:p.Arg4271del
XM_024449337.1:c.12849_12851del	XP_024305105.1:p.Arg4283del
NM_014363.6:c.12822_12824del MANE Select	NP_055178.3:p.Arg4274del
NM_001278055.2:c.12381_12383del	NP_001264984.1:p.Arg4127del