Canonical Allele Identifier: CA2622329051

Gene: SACS

Linked Data

• gnomAD v4: 13-23338322-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338324del , CM000675.2:g.23338324del	GRCh38
NC_000013.10:g.23912463del , CM000675.1:g.23912463del	GRCh37
NC_000013.9:g.22810463del	NCBI36
NG_012342.1:g.100380del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+15462del	ENSP00000508399.1:n.2185+15462del
ENST00000682944.1:c.5580del	ENSP00000507173.1:p.Gln1861SerfsTer12
ENST00000683210.1:c.2185+15462del	ENSP00000506739.1:n.2185+15462del
ENST00000683270.1:c.5544del	ENSP00000507624.1:p.Gln1849SerfsTer12
ENST00000683367.1:c.2177-8839del	ENSP00000507780.1:n.2177-8839del
ENST00000683489.1:c.2291+3262del	ENSP00000508403.1:n.2291+3262del
ENST00000683680.1:c.2318+3262del	ENSP00000507223.1:n.2318+3262del
ENST00000684163.1:c.2203+8488del	ENSP00000508262.1:n.2203+8488del
ENST00000684196.1:n.4543-8839del
ENST00000684325.1:c.2185+15462del	ENSP00000508121.1:n.2185+15462del
ENST00000684385.1:c.2220+8488del	ENSP00000507855.1:n.2220+8488del
ENST00000684497.1:c.2185+15462del	ENSP00000507057.1:n.2185+15462del
ENST00000382292.9:c.5553del MANE Select	ENSP00000371729.3:p.Gln1852SerfsTer12
ENST00000423156.2:c.2186-8839del	ENSP00000390925.2:n.2186-8839del
ENST00000455470.6:c.2431+3122del	ENSP00000406565.2:n.2431+3122del
ENST00000382292.7:c.5553del	ENSP00000371729.3:p.Gln1852SerfsTer12
ENST00000382298.7:c.5553del	ENSP00000371735.3:p.Gln1852SerfsTer12
ENST00000402364.1:c.3303del	ENSP00000385844.1:p.Gln1102SerfsTer12
ENST00000423156.1:c.1058-8839del	ENSP00000390925.1:n.1058-8839del
ENST00000455470.5:c.2129+3122del
NM_001278055.1:c.5112del	NP_001264984.1:p.Gln1705SerfsTer12
NM_014363.5:c.5553del	NP_055178.3:p.Gln1852SerfsTer12
XM_005266338.1:c.5580del	XP_005266395.1:p.Gln1861SerfsTer12
XM_011535038.1:c.5604del	XP_011533340.1:p.Gln1869SerfsTer12
XM_011535039.1:c.5571del	XP_011533341.1:p.Gln1858SerfsTer12
XM_005266338.2:c.5580del	XP_005266395.1:p.Gln1861SerfsTer12
XM_011535039.2:c.5571del	XP_011533341.1:p.Gln1858SerfsTer12
XM_017020539.1:c.5544del	XP_016876028.1:p.Gln1849SerfsTer12
XM_024449337.1:c.5580del	XP_024305105.1:p.Gln1861SerfsTer12
NM_014363.6:c.5553del MANE Select	NP_055178.3:p.Gln1852SerfsTer12
NM_001278055.2:c.5112del	NP_001264984.1:p.Gln1705SerfsTer12