Canonical Allele Identifier: CA2622329016

Gene: SACS

Linked Data

• gnomAD v4: 13-23337316-ATAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337321_23337323del , CM000675.2:g.23337321_23337323del	GRCh38
NC_000013.10:g.23911460_23911462del , CM000675.1:g.23911460_23911462del	GRCh37
NC_000013.9:g.22809460_22809462del	NCBI36
NG_012342.1:g.101384_101386del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16466_2185+16468del	ENSP00000508399.1:n.2185+16466_2185+16468del
ENST00000682944.1:c.6584_6586del	ENSP00000507173.1:p.Ser2195del
ENST00000683210.1:c.2185+16466_2185+16468del	ENSP00000506739.1:n.2185+16466_2185+16468del
ENST00000683270.1:c.6445+103_6445+105del	ENSP00000507624.1:n.6445+103_6445+105del
ENST00000683367.1:c.2177-7835_2177-7833del	ENSP00000507780.1:n.2177-7835_2177-7833del
ENST00000683489.1:c.2291+4266_2291+4268del	ENSP00000508403.1:n.2291+4266_2291+4268del
ENST00000683680.1:c.2318+4266_2318+4268del	ENSP00000507223.1:n.2318+4266_2318+4268del
ENST00000684163.1:c.2204-7835_2204-7833del	ENSP00000508262.1:n.2204-7835_2204-7833del
ENST00000684196.1:n.4543-7835_4543-7833del
ENST00000684325.1:c.2186-15645_2186-15643del	ENSP00000508121.1:n.2186-15645_2186-15643del
ENST00000684385.1:c.2221-7835_2221-7833del	ENSP00000507855.1:n.2221-7835_2221-7833del
ENST00000684497.1:c.2186-14675_2186-14673del	ENSP00000507057.1:n.2186-14675_2186-14673del
ENST00000382292.9:c.6557_6559del MANE Select	ENSP00000371729.3:p.Ser2186del
ENST00000423156.2:c.2186-7835_2186-7833del	ENSP00000390925.2:n.2186-7835_2186-7833del
ENST00000455470.6:c.2431+4126_2431+4128del	ENSP00000406565.2:n.2431+4126_2431+4128del
ENST00000382292.7:c.6557_6559del	ENSP00000371729.3:p.Ser2186del
ENST00000382298.7:c.6557_6559del	ENSP00000371735.3:p.Ser2186del
ENST00000402364.1:c.4307_4309del	ENSP00000385844.1:p.Ser1436del
ENST00000423156.1:c.1058-7835_1058-7833del	ENSP00000390925.1:n.1058-7835_1058-7833del
ENST00000455470.5:c.2129+4126_2129+4128del
NM_001278055.1:c.6116_6118del	NP_001264984.1:p.Ser2039del
NM_014363.5:c.6557_6559del	NP_055178.3:p.Ser2186del
XM_005266338.1:c.6584_6586del	XP_005266395.1:p.Ser2195del
XM_011535038.1:c.6608_6610del	XP_011533340.1:p.Ser2203del
XM_011535039.1:c.6575_6577del	XP_011533341.1:p.Ser2192del
XM_005266338.2:c.6584_6586del	XP_005266395.1:p.Ser2195del
XM_011535039.2:c.6575_6577del	XP_011533341.1:p.Ser2192del
XM_017020539.1:c.6548_6550del	XP_016876028.1:p.Ser2183del
XM_024449337.1:c.6584_6586del	XP_024305105.1:p.Ser2195del
NM_014363.6:c.6557_6559del MANE Select	NP_055178.3:p.Ser2186del
NM_001278055.2:c.6116_6118del	NP_001264984.1:p.Ser2039del