Canonical Allele Identifier: CA608985264

Gene: SACS

Linked Data

• dbSNP Id: rs1390624396
• gnomAD v2: 13-23912604-GGCT-G
• gnomAD v4: 13-23338465-GGCT-G
• MyVariant Identifiers: chr13:g.23912605_23912607del (hg19) ; chr13:g.23338466_23338468del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338466_23338468del , CM000675.2:g.23338466_23338468del	GRCh38
NC_000013.10:g.23912605_23912607del , CM000675.1:g.23912605_23912607del	GRCh37
NC_000013.9:g.22810605_22810607del	NCBI36
NG_012342.1:g.100235_100237del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15317_2185+15319del	ENSP00000508399.1:n.2185+15317_2185+15319del
ENST00000682944.1:c.5435_5437del	ENSP00000507173.1:p.Lys1812_Pro1813delinsThr
ENST00000683210.1:c.2185+15317_2185+15319del	ENSP00000506739.1:n.2185+15317_2185+15319del
ENST00000683270.1:c.5399_5401del	ENSP00000507624.1:p.Lys1800_Pro1801delinsThr
ENST00000683367.1:c.2177-8984_2177-8982del	ENSP00000507780.1:n.2177-8984_2177-8982del
ENST00000683489.1:c.2291+3117_2291+3119del	ENSP00000508403.1:n.2291+3117_2291+3119del
ENST00000683680.1:c.2318+3117_2318+3119del	ENSP00000507223.1:n.2318+3117_2318+3119del
ENST00000684163.1:c.2203+8343_2203+8345del	ENSP00000508262.1:n.2203+8343_2203+8345del
ENST00000684196.1:n.4543-8984_4543-8982del
ENST00000684325.1:c.2185+15317_2185+15319del	ENSP00000508121.1:n.2185+15317_2185+15319del
ENST00000684385.1:c.2220+8343_2220+8345del	ENSP00000507855.1:n.2220+8343_2220+8345del
ENST00000684497.1:c.2185+15317_2185+15319del	ENSP00000507057.1:n.2185+15317_2185+15319del
ENST00000382292.9:c.5408_5410del MANE Select	ENSP00000371729.3:p.Lys1803_Pro1804delinsThr
ENST00000423156.2:c.2186-8984_2186-8982del	ENSP00000390925.2:n.2186-8984_2186-8982del
ENST00000455470.6:c.2431+2977_2431+2979del	ENSP00000406565.2:n.2431+2977_2431+2979del
ENST00000382292.7:c.5408_5410del	ENSP00000371729.3:p.Lys1803_Pro1804delinsThr
ENST00000382298.7:c.5408_5410del	ENSP00000371735.3:p.Lys1803_Pro1804delinsThr
ENST00000402364.1:c.3158_3160del	ENSP00000385844.1:p.Lys1053_Pro1054delinsThr
ENST00000423156.1:c.1058-8984_1058-8982del	ENSP00000390925.1:n.1058-8984_1058-8982del
ENST00000455470.5:c.2129+2977_2129+2979del
NM_001278055.1:c.4967_4969del	NP_001264984.1:p.Lys1656_Pro1657delinsThr
NM_014363.5:c.5408_5410del	NP_055178.3:p.Lys1803_Pro1804delinsThr
XM_005266338.1:c.5435_5437del	XP_005266395.1:p.Lys1812_Pro1813delinsThr
XM_011535038.1:c.5459_5461del	XP_011533340.1:p.Lys1820_Pro1821delinsThr
XM_011535039.1:c.5426_5428del	XP_011533341.1:p.Lys1809_Pro1810delinsThr
XM_005266338.2:c.5435_5437del	XP_005266395.1:p.Lys1812_Pro1813delinsThr
XM_011535039.2:c.5426_5428del	XP_011533341.1:p.Lys1809_Pro1810delinsThr
XM_017020539.1:c.5399_5401del	XP_016876028.1:p.Lys1800_Pro1801delinsThr
XM_024449337.1:c.5435_5437del	XP_024305105.1:p.Lys1812_Pro1813delinsThr
NM_014363.6:c.5408_5410del MANE Select	NP_055178.3:p.Lys1803_Pro1804delinsThr
NM_001278055.2:c.4967_4969del	NP_001264984.1:p.Lys1656_Pro1657delinsThr