Canonical Allele Identifier: CA2622328941

Gene: SACS

Linked Data

• gnomAD v4: 13-23334742-ATAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334746_23334748del , CM000675.2:g.23334746_23334748del	GRCh38
NC_000013.10:g.23908885_23908887del , CM000675.1:g.23908885_23908887del	GRCh37
NC_000013.9:g.22806885_22806887del	NCBI36
NG_012342.1:g.103958_103960del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19040_2185+19042del	ENSP00000508399.1:n.2185+19040_2185+19042del
ENST00000682944.1:c.9158_9160del	ENSP00000507173.1:p.Asn3053del
ENST00000683210.1:c.2185+19040_2185+19042del	ENSP00000506739.1:n.2185+19040_2185+19042del
ENST00000683270.1:c.6445+2677_6445+2679del	ENSP00000507624.1:n.6445+2677_6445+2679del
ENST00000683367.1:c.2177-5261_2177-5259del	ENSP00000507780.1:n.2177-5261_2177-5259del
ENST00000683489.1:c.2292-4793_2292-4791del	ENSP00000508403.1:n.2292-4793_2292-4791del
ENST00000683680.1:c.2319-4793_2319-4791del	ENSP00000507223.1:n.2319-4793_2319-4791del
ENST00000684163.1:c.2204-5261_2204-5259del	ENSP00000508262.1:n.2204-5261_2204-5259del
ENST00000684196.1:n.4543-5261_4543-5259del
ENST00000684325.1:c.2186-13071_2186-13069del	ENSP00000508121.1:n.2186-13071_2186-13069del
ENST00000684385.1:c.2221-5261_2221-5259del	ENSP00000507855.1:n.2221-5261_2221-5259del
ENST00000684497.1:c.2186-12101_2186-12099del	ENSP00000507057.1:n.2186-12101_2186-12099del
ENST00000382292.9:c.9131_9133del MANE Select	ENSP00000371729.3:p.Asn3044del
ENST00000423156.2:c.2186-5261_2186-5259del	ENSP00000390925.2:n.2186-5261_2186-5259del
ENST00000455470.6:c.2432-5261_2432-5259del	ENSP00000406565.2:n.2432-5261_2432-5259del
ENST00000382292.7:c.9131_9133del	ENSP00000371729.3:p.Asn3044del
ENST00000382298.7:c.9131_9133del	ENSP00000371735.3:p.Asn3044del
ENST00000402364.1:c.6881_6883del	ENSP00000385844.1:p.Asn2294del
ENST00000423156.1:c.1058-5261_1058-5259del	ENSP00000390925.1:n.1058-5261_1058-5259del
ENST00000455470.5:c.2130-5261_2130-5259del
NM_001278055.1:c.8690_8692del	NP_001264984.1:p.Asn2897del
NM_014363.5:c.9131_9133del	NP_055178.3:p.Asn3044del
XM_005266338.1:c.9158_9160del	XP_005266395.1:p.Asn3053del
XM_011535038.1:c.9182_9184del	XP_011533340.1:p.Asn3061del
XM_011535039.1:c.9149_9151del	XP_011533341.1:p.Asn3050del
XM_005266338.2:c.9158_9160del	XP_005266395.1:p.Asn3053del
XM_011535039.2:c.9149_9151del	XP_011533341.1:p.Asn3050del
XM_017020539.1:c.9122_9124del	XP_016876028.1:p.Asn3041del
XM_024449337.1:c.9158_9160del	XP_024305105.1:p.Asn3053del
NM_014363.6:c.9131_9133del MANE Select	NP_055178.3:p.Asn3044del
NM_001278055.2:c.8690_8692del	NP_001264984.1:p.Asn2897del