Canonical Allele Identifier: CA2622329007

Gene: SACS

Linked Data

• gnomAD v4: 13-23336212-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336213del , CM000675.2:g.23336213del	GRCh38
NC_000013.10:g.23910352del , CM000675.1:g.23910352del	GRCh37
NC_000013.9:g.22808352del	NCBI36
NG_012342.1:g.102490del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17572del	ENSP00000508399.1:n.2185+17572del
ENST00000682944.1:c.7690del	ENSP00000507173.1:p.Asp2564MetfsTer?
ENST00000683210.1:c.2185+17572del	ENSP00000506739.1:n.2185+17572del
ENST00000683270.1:c.6445+1209del	ENSP00000507624.1:n.6445+1209del
ENST00000683367.1:c.2177-6729del	ENSP00000507780.1:n.2177-6729del
ENST00000683489.1:c.2291+5372del	ENSP00000508403.1:n.2291+5372del
ENST00000683680.1:c.2318+5372del	ENSP00000507223.1:n.2318+5372del
ENST00000684163.1:c.2204-6729del	ENSP00000508262.1:n.2204-6729del
ENST00000684196.1:n.4543-6729del
ENST00000684325.1:c.2186-14539del	ENSP00000508121.1:n.2186-14539del
ENST00000684385.1:c.2221-6729del	ENSP00000507855.1:n.2221-6729del
ENST00000684497.1:c.2186-13569del	ENSP00000507057.1:n.2186-13569del
ENST00000382292.9:c.7663del MANE Select	ENSP00000371729.3:p.Asp2555MetfsTer?
ENST00000423156.2:c.2186-6729del	ENSP00000390925.2:n.2186-6729del
ENST00000455470.6:c.2431+5232del	ENSP00000406565.2:n.2431+5232del
ENST00000382292.7:c.7663del	ENSP00000371729.3:p.Asp2555MetfsTer?
ENST00000382298.7:c.7663del	ENSP00000371735.3:p.Asp2555MetfsTer?
ENST00000402364.1:c.5413del	ENSP00000385844.1:p.Asp1805MetfsTer?
ENST00000423156.1:c.1058-6729del	ENSP00000390925.1:n.1058-6729del
ENST00000455470.5:c.2129+5232del
NM_001278055.1:c.7222del	NP_001264984.1:p.Asp2408MetfsTer?
NM_014363.5:c.7663del	NP_055178.3:p.Asp2555MetfsTer?
XM_005266338.1:c.7690del	XP_005266395.1:p.Asp2564MetfsTer?
XM_011535038.1:c.7714del	XP_011533340.1:p.Asp2572MetfsTer?
XM_011535039.1:c.7681del	XP_011533341.1:p.Asp2561MetfsTer?
XM_005266338.2:c.7690del	XP_005266395.1:p.Asp2564MetfsTer?
XM_011535039.2:c.7681del	XP_011533341.1:p.Asp2561MetfsTer?
XM_017020539.1:c.7654del	XP_016876028.1:p.Asp2552MetfsTer?
XM_024449337.1:c.7690del	XP_024305105.1:p.Asp2564MetfsTer?
NM_014363.6:c.7663del MANE Select	NP_055178.3:p.Asp2555MetfsTer?
NM_001278055.2:c.7222del	NP_001264984.1:p.Asp2408MetfsTer?