Canonical Allele Identifier: CA2622329018

Gene: SACS

Linked Data

• gnomAD v4: 13-23337321-ACTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337325_23337327del , CM000675.2:g.23337325_23337327del	GRCh38
NC_000013.10:g.23911464_23911466del , CM000675.1:g.23911464_23911466del	GRCh37
NC_000013.9:g.22809464_22809466del	NCBI36
NG_012342.1:g.101379_101381del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+16461_2185+16463del	ENSP00000508399.1:n.2185+16461_2185+16463...
ENST00000682944.1:c.6579_6581del	ENSP00000507173.1:p.Arg2193del
ENST00000683210.1:c.2185+16461_2185+16463del	ENSP00000506739.1:n.2185+16461_2185+16463...
ENST00000683270.1:c.6445+98_6445+100del	ENSP00000507624.1:n.6445+98_6445+100del
ENST00000683367.1:c.2177-7840_2177-7838del	ENSP00000507780.1:n.2177-7840_2177-7838de...
ENST00000683489.1:c.2291+4261_2291+4263del	ENSP00000508403.1:n.2291+4261_2291+4263de...
ENST00000683680.1:c.2318+4261_2318+4263del	ENSP00000507223.1:n.2318+4261_2318+4263de...
ENST00000684163.1:c.2204-7840_2204-7838del	ENSP00000508262.1:n.2204-7840_2204-7838de...
ENST00000684196.1:n.4543-7840_4543-7838del
ENST00000684325.1:c.2186-15650_2186-15648del	ENSP00000508121.1:n.2186-15650_2186-15648...
ENST00000684385.1:c.2221-7840_2221-7838del	ENSP00000507855.1:n.2221-7840_2221-7838de...
ENST00000684497.1:c.2186-14680_2186-14678del	ENSP00000507057.1:n.2186-14680_2186-14678...
ENST00000382292.9:c.6552_6554del MANE Select	ENSP00000371729.3:p.Arg2184del
ENST00000423156.2:c.2186-7840_2186-7838del	ENSP00000390925.2:n.2186-7840_2186-7838de...
ENST00000455470.6:c.2431+4121_2431+4123del	ENSP00000406565.2:n.2431+4121_2431+4123de...
ENST00000382292.7:c.6552_6554del	ENSP00000371729.3:p.Arg2184del
ENST00000382298.7:c.6552_6554del	ENSP00000371735.3:p.Arg2184del
ENST00000402364.1:c.4302_4304del	ENSP00000385844.1:p.Arg1434del
ENST00000423156.1:c.1058-7840_1058-7838del	ENSP00000390925.1:n.1058-7840_1058-7838de...
ENST00000455470.5:c.2129+4121_2129+4123del
NM_001278055.1:c.6111_6113del	NP_001264984.1:p.Arg2037del
NM_014363.5:c.6552_6554del	NP_055178.3:p.Arg2184del
XM_005266338.1:c.6579_6581del	XP_005266395.1:p.Arg2193del
XM_011535038.1:c.6603_6605del	XP_011533340.1:p.Arg2201del
XM_011535039.1:c.6570_6572del	XP_011533341.1:p.Arg2190del
XM_005266338.2:c.6579_6581del	XP_005266395.1:p.Arg2193del
XM_011535039.2:c.6570_6572del	XP_011533341.1:p.Arg2190del
XM_017020539.1:c.6543_6545del	XP_016876028.1:p.Arg2181del
XM_024449337.1:c.6579_6581del	XP_024305105.1:p.Arg2193del
NM_014363.6:c.6552_6554del MANE Select	NP_055178.3:p.Arg2184del
NM_001278055.2:c.6111_6113del	NP_001264984.1:p.Arg2037del