Canonical Allele Identifier: CA2575369452

Gene: SACS

Linked Data

• gnomAD v4: 13-23333401-GCAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333405_23333407del , CM000675.2:g.23333405_23333407del	GRCh38
NC_000013.10:g.23907544_23907546del , CM000675.1:g.23907544_23907546del	GRCh37
NC_000013.9:g.22805544_22805546del	NCBI36
NG_012342.1:g.105299_105301del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20381_2185+20383del	ENSP00000508399.1:n.2185+20381_2185+20383del
ENST00000682944.1:c.10499_10501del	ENSP00000507173.1:p.Asp3500del
ENST00000683210.1:c.2185+20381_2185+20383del	ENSP00000506739.1:n.2185+20381_2185+20383del
ENST00000683270.1:c.6446-3920_6446-3918del	ENSP00000507624.1:n.6446-3920_6446-3918del
ENST00000683367.1:c.2177-3920_2177-3918del	ENSP00000507780.1:n.2177-3920_2177-3918del
ENST00000683489.1:c.2292-3452_2292-3450del	ENSP00000508403.1:n.2292-3452_2292-3450del
ENST00000683680.1:c.2319-3452_2319-3450del	ENSP00000507223.1:n.2319-3452_2319-3450del
ENST00000684163.1:c.2204-3920_2204-3918del	ENSP00000508262.1:n.2204-3920_2204-3918del
ENST00000684196.1:n.4543-3920_4543-3918del
ENST00000684325.1:c.2186-11730_2186-11728del	ENSP00000508121.1:n.2186-11730_2186-11728del
ENST00000684385.1:c.2221-3920_2221-3918del	ENSP00000507855.1:n.2221-3920_2221-3918del
ENST00000684497.1:c.2186-10760_2186-10758del	ENSP00000507057.1:n.2186-10760_2186-10758del
ENST00000382292.9:c.10472_10474del MANE Select	ENSP00000371729.3:p.Asp3491del
ENST00000423156.2:c.2186-3920_2186-3918del	ENSP00000390925.2:n.2186-3920_2186-3918del
ENST00000455470.6:c.2432-3920_2432-3918del	ENSP00000406565.2:n.2432-3920_2432-3918del
ENST00000382292.7:c.10472_10474del	ENSP00000371729.3:p.Asp3491del
ENST00000382298.7:c.10472_10474del	ENSP00000371735.3:p.Asp3491del
ENST00000402364.1:c.8222_8224del	ENSP00000385844.1:p.Asp2741del
ENST00000423156.1:c.1058-3920_1058-3918del	ENSP00000390925.1:n.1058-3920_1058-3918del
ENST00000455470.5:c.2130-3920_2130-3918del
NM_001278055.1:c.10031_10033del	NP_001264984.1:p.Asp3344del
NM_014363.5:c.10472_10474del	NP_055178.3:p.Asp3491del
XM_005266338.1:c.10499_10501del	XP_005266395.1:p.Asp3500del
XM_011535038.1:c.10523_10525del	XP_011533340.1:p.Asp3508del
XM_011535039.1:c.10490_10492del	XP_011533341.1:p.Asp3497del
XM_005266338.2:c.10499_10501del	XP_005266395.1:p.Asp3500del
XM_011535039.2:c.10490_10492del	XP_011533341.1:p.Asp3497del
XM_017020539.1:c.10463_10465del	XP_016876028.1:p.Asp3488del
XM_024449337.1:c.10499_10501del	XP_024305105.1:p.Asp3500del
NM_014363.6:c.10472_10474del MANE Select	NP_055178.3:p.Asp3491del
NM_001278055.2:c.10031_10033del	NP_001264984.1:p.Asp3344del