Canonical Allele Identifier: CA2622329041

Gene: SACS

Linked Data

• gnomAD v4: 13-23337749-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337750del , CM000675.2:g.23337750del	GRCh38
NC_000013.10:g.23911889del , CM000675.1:g.23911889del	GRCh37
NC_000013.9:g.22809889del	NCBI36
NG_012342.1:g.100953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16035del	ENSP00000508399.1:n.2185+16035del
ENST00000682944.1:c.6153del	ENSP00000507173.1:p.Cys2051Ter
ENST00000683210.1:c.2185+16035del	ENSP00000506739.1:n.2185+16035del
ENST00000683270.1:c.6117del	ENSP00000507624.1:p.Cys2039Ter
ENST00000683367.1:c.2177-8266del	ENSP00000507780.1:n.2177-8266del
ENST00000683489.1:c.2291+3835del	ENSP00000508403.1:n.2291+3835del
ENST00000683680.1:c.2318+3835del	ENSP00000507223.1:n.2318+3835del
ENST00000684163.1:c.2204-8266del	ENSP00000508262.1:n.2204-8266del
ENST00000684196.1:n.4543-8266del
ENST00000684325.1:c.2185+16035del	ENSP00000508121.1:n.2185+16035del
ENST00000684385.1:c.2221-8266del	ENSP00000507855.1:n.2221-8266del
ENST00000684497.1:c.2186-15106del	ENSP00000507057.1:n.2186-15106del
ENST00000382292.9:c.6126del MANE Select	ENSP00000371729.3:p.Cys2042Ter
ENST00000423156.2:c.2186-8266del	ENSP00000390925.2:n.2186-8266del
ENST00000455470.6:c.2431+3695del	ENSP00000406565.2:n.2431+3695del
ENST00000382292.7:c.6126del	ENSP00000371729.3:p.Cys2042Ter
ENST00000382298.7:c.6126del	ENSP00000371735.3:p.Cys2042Ter
ENST00000402364.1:c.3876del	ENSP00000385844.1:p.Cys1292Ter
ENST00000423156.1:c.1058-8266del	ENSP00000390925.1:n.1058-8266del
ENST00000455470.5:c.2129+3695del
NM_001278055.1:c.5685del	NP_001264984.1:p.Cys1895Ter
NM_014363.5:c.6126del	NP_055178.3:p.Cys2042Ter
XM_005266338.1:c.6153del	XP_005266395.1:p.Cys2051Ter
XM_011535038.1:c.6177del	XP_011533340.1:p.Cys2059Ter
XM_011535039.1:c.6144del	XP_011533341.1:p.Cys2048Ter
XM_005266338.2:c.6153del	XP_005266395.1:p.Cys2051Ter
XM_011535039.2:c.6144del	XP_011533341.1:p.Cys2048Ter
XM_017020539.1:c.6117del	XP_016876028.1:p.Cys2039Ter
XM_024449337.1:c.6153del	XP_024305105.1:p.Cys2051Ter
NM_014363.6:c.6126del MANE Select	NP_055178.3:p.Cys2042Ter
NM_001278055.2:c.5685del	NP_001264984.1:p.Cys1895Ter