Canonical Allele Identifier: CA696637031

Gene: SACS

Linked Data

• ClinVar Variation Id: 2678508
• ClinVar RCV Id: RCV003466318 ; RCV003750973
• dbSNP Id: rs1318561870
• gnomAD v3: 13-23338467-CTTTT-C
• gnomAD v4: 13-23338467-CTTTT-C
• MyVariant Identifiers: chr13:g.23912607_23912610del (hg19) ; chr13:g.23338468_23338471del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338470_23338473del , CM000675.2:g.23338470_23338473del	GRCh38
NC_000013.10:g.23912609_23912612del , CM000675.1:g.23912609_23912612del	GRCh37
NC_000013.9:g.22810609_22810612del	NCBI36
NG_012342.1:g.100232_100235del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15314_2185+15317del	ENSP00000508399.1:n.2185+15314_2185+15317del
ENST00000682944.1:c.5432_5435del	ENSP00000507173.1:p.Lys1811SerfsTer11
ENST00000683210.1:c.2185+15314_2185+15317del	ENSP00000506739.1:n.2185+15314_2185+15317del
ENST00000683270.1:c.5396_5399del	ENSP00000507624.1:p.Lys1799SerfsTer11
ENST00000683367.1:c.2177-8987_2177-8984del	ENSP00000507780.1:n.2177-8987_2177-8984del
ENST00000683489.1:c.2291+3114_2291+3117del	ENSP00000508403.1:n.2291+3114_2291+3117del
ENST00000683680.1:c.2318+3114_2318+3117del	ENSP00000507223.1:n.2318+3114_2318+3117del
ENST00000684163.1:c.2203+8340_2203+8343del	ENSP00000508262.1:n.2203+8340_2203+8343del
ENST00000684196.1:n.4543-8987_4543-8984del
ENST00000684325.1:c.2185+15314_2185+15317del	ENSP00000508121.1:n.2185+15314_2185+15317del
ENST00000684385.1:c.2220+8340_2220+8343del	ENSP00000507855.1:n.2220+8340_2220+8343del
ENST00000684497.1:c.2185+15314_2185+15317del	ENSP00000507057.1:n.2185+15314_2185+15317del
ENST00000382292.9:c.5405_5408del MANE Select	ENSP00000371729.3:p.Lys1802SerfsTer11
ENST00000423156.2:c.2186-8987_2186-8984del	ENSP00000390925.2:n.2186-8987_2186-8984del
ENST00000455470.6:c.2431+2974_2431+2977del	ENSP00000406565.2:n.2431+2974_2431+2977del
ENST00000382292.7:c.5405_5408del	ENSP00000371729.3:p.Lys1802SerfsTer11
ENST00000382298.7:c.5405_5408del	ENSP00000371735.3:p.Lys1802SerfsTer11
ENST00000402364.1:c.3155_3158del	ENSP00000385844.1:p.Lys1052SerfsTer11
ENST00000423156.1:c.1058-8987_1058-8984del	ENSP00000390925.1:n.1058-8987_1058-8984del
ENST00000455470.5:c.2129+2974_2129+2977del
NM_001278055.1:c.4964_4967del	NP_001264984.1:p.Lys1655SerfsTer11
NM_014363.5:c.5405_5408del	NP_055178.3:p.Lys1802SerfsTer11
XM_005266338.1:c.5432_5435del	XP_005266395.1:p.Lys1811SerfsTer11
XM_011535038.1:c.5456_5459del	XP_011533340.1:p.Lys1819SerfsTer11
XM_011535039.1:c.5423_5426del	XP_011533341.1:p.Lys1808SerfsTer11
XM_005266338.2:c.5432_5435del	XP_005266395.1:p.Lys1811SerfsTer11
XM_011535039.2:c.5423_5426del	XP_011533341.1:p.Lys1808SerfsTer11
XM_017020539.1:c.5396_5399del	XP_016876028.1:p.Lys1799SerfsTer11
XM_024449337.1:c.5432_5435del	XP_024305105.1:p.Lys1811SerfsTer11
NM_014363.6:c.5405_5408del MANE Select	NP_055178.3:p.Lys1802SerfsTer11
NM_001278055.2:c.4964_4967del	NP_001264984.1:p.Lys1655SerfsTer11