Canonical Allele Identifier: CA2622328999

Gene: SACS

Linked Data

• gnomAD v4: 13-23336102-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336103del , CM000675.2:g.23336103del	GRCh38
NC_000013.10:g.23910242del , CM000675.1:g.23910242del	GRCh37
NC_000013.9:g.22808242del	NCBI36
NG_012342.1:g.102600del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17682del	ENSP00000508399.1:n.2185+17682del
ENST00000682944.1:c.7800del	ENSP00000507173.1:p.Tyr2600Ter
ENST00000683210.1:c.2185+17682del	ENSP00000506739.1:n.2185+17682del
ENST00000683270.1:c.6445+1319del	ENSP00000507624.1:n.6445+1319del
ENST00000683367.1:c.2177-6619del	ENSP00000507780.1:n.2177-6619del
ENST00000683489.1:c.2291+5482del	ENSP00000508403.1:n.2291+5482del
ENST00000683680.1:c.2318+5482del	ENSP00000507223.1:n.2318+5482del
ENST00000684163.1:c.2204-6619del	ENSP00000508262.1:n.2204-6619del
ENST00000684196.1:n.4543-6619del
ENST00000684325.1:c.2186-14429del	ENSP00000508121.1:n.2186-14429del
ENST00000684385.1:c.2221-6619del	ENSP00000507855.1:n.2221-6619del
ENST00000684497.1:c.2186-13459del	ENSP00000507057.1:n.2186-13459del
ENST00000382292.9:c.7773del MANE Select	ENSP00000371729.3:p.Tyr2591Ter
ENST00000423156.2:c.2186-6619del	ENSP00000390925.2:n.2186-6619del
ENST00000455470.6:c.2431+5342del	ENSP00000406565.2:n.2431+5342del
ENST00000382292.7:c.7773del	ENSP00000371729.3:p.Tyr2591Ter
ENST00000382298.7:c.7773del	ENSP00000371735.3:p.Tyr2591Ter
ENST00000402364.1:c.5523del	ENSP00000385844.1:p.Tyr1841Ter
ENST00000423156.1:c.1058-6619del	ENSP00000390925.1:n.1058-6619del
ENST00000455470.5:c.2129+5342del
NM_001278055.1:c.7332del	NP_001264984.1:p.Tyr2444Ter
NM_014363.5:c.7773del	NP_055178.3:p.Tyr2591Ter
XM_005266338.1:c.7800del	XP_005266395.1:p.Tyr2600Ter
XM_011535038.1:c.7824del	XP_011533340.1:p.Tyr2608Ter
XM_011535039.1:c.7791del	XP_011533341.1:p.Tyr2597Ter
XM_005266338.2:c.7800del	XP_005266395.1:p.Tyr2600Ter
XM_011535039.2:c.7791del	XP_011533341.1:p.Tyr2597Ter
XM_017020539.1:c.7764del	XP_016876028.1:p.Tyr2588Ter
XM_024449337.1:c.7800del	XP_024305105.1:p.Tyr2600Ter
NM_014363.6:c.7773del MANE Select	NP_055178.3:p.Tyr2591Ter
NM_001278055.2:c.7332del	NP_001264984.1:p.Tyr2444Ter