Canonical Allele Identifier: CA2622329075

Gene: SACS

Linked Data

• gnomAD v4: 13-23341023-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341024del , CM000675.2:g.23341024del	GRCh38
NC_000013.10:g.23915163del , CM000675.1:g.23915163del	GRCh37
NC_000013.9:g.22813163del	NCBI36
NG_012342.1:g.97679del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+12761del	ENSP00000508399.1:n.2185+12761del
ENST00000682944.1:c.2879del	ENSP00000507173.1:p.His960ProfsTer16
ENST00000683210.1:c.2185+12761del	ENSP00000506739.1:n.2185+12761del
ENST00000683270.1:c.2843del	ENSP00000507624.1:p.His948ProfsTer16
ENST00000683367.1:c.2177-11540del	ENSP00000507780.1:n.2177-11540del
ENST00000683489.1:c.2291+561del	ENSP00000508403.1:n.2291+561del
ENST00000683680.1:c.2318+561del	ENSP00000507223.1:n.2318+561del
ENST00000684163.1:c.2203+5787del	ENSP00000508262.1:n.2203+5787del
ENST00000684196.1:n.4543-11540del
ENST00000684325.1:c.2185+12761del	ENSP00000508121.1:n.2185+12761del
ENST00000684385.1:c.2220+5787del	ENSP00000507855.1:n.2220+5787del
ENST00000684497.1:c.2185+12761del	ENSP00000507057.1:n.2185+12761del
ENST00000382292.9:c.2852del MANE Select	ENSP00000371729.3:p.His951ProfsTer16
ENST00000423156.2:c.2186-11540del	ENSP00000390925.2:n.2186-11540del
ENST00000455470.6:c.2431+421del	ENSP00000406565.2:n.2431+421del
ENST00000382292.7:c.2852del	ENSP00000371729.3:p.His951ProfsTer16
ENST00000382298.7:c.2852del	ENSP00000371735.3:p.His951ProfsTer16
ENST00000402364.1:c.602del	ENSP00000385844.1:p.His201ProfsTer16
ENST00000423156.1:c.1058-11540del	ENSP00000390925.1:n.1058-11540del
ENST00000455470.5:c.2129+421del
NM_001278055.1:c.2411del	NP_001264984.1:p.His804ProfsTer16
NM_014363.5:c.2852del	NP_055178.3:p.His951ProfsTer16
XM_005266338.1:c.2879del	XP_005266395.1:p.His960ProfsTer16
XM_011535038.1:c.2903del	XP_011533340.1:p.His968ProfsTer16
XM_011535039.1:c.2870del	XP_011533341.1:p.His957ProfsTer16
XM_005266338.2:c.2879del	XP_005266395.1:p.His960ProfsTer16
XM_011535039.2:c.2870del	XP_011533341.1:p.His957ProfsTer16
XM_017020539.1:c.2843del	XP_016876028.1:p.His948ProfsTer16
XM_024449337.1:c.2879del	XP_024305105.1:p.His960ProfsTer16
NM_014363.6:c.2852del MANE Select	NP_055178.3:p.His951ProfsTer16
NM_001278055.2:c.2411del	NP_001264984.1:p.His804ProfsTer16