Canonical Allele Identifier: CA658823514

Gene: SACS

Linked Data

• ClinVar Variation Id: 551194
• ClinVar RCV Id: RCV000666183
• dbSNP Id: rs1555249338
• gnomAD v4: 13-23330754-CCT-C
• MyVariant Identifiers: chr13:g.23330755_23330756del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330755_23330756del , CM000675.2:g.23330755_23330756del	GRCh38
NC_000013.10:g.23904894_23904895del , CM000675.1:g.23904894_23904895del	GRCh37
NC_000013.9:g.22802894_22802895del	NCBI36
NG_012342.1:g.107947_107948del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18641_2186-18640del	ENSP00000508399.1:n.2186-18641_2186-18640del
ENST00000682944.1:c.13147_13148del	ENSP00000507173.1:p.Arg4383GlyfsTer?
ENST00000683210.1:c.2185+23029_2185+23030del	ENSP00000506739.1:n.2185+23029_2185+23030del
ENST00000683270.1:c.6446-1272_6446-1271del	ENSP00000507624.1:n.6446-1272_6446-1271del
ENST00000683367.1:c.2177-1272_2177-1271del	ENSP00000507780.1:n.2177-1272_2177-1271del
ENST00000683489.1:c.2292-804_2292-803del	ENSP00000508403.1:n.2292-804_2292-803del
ENST00000683680.1:c.2319-804_2319-803del	ENSP00000507223.1:n.2319-804_2319-803del
ENST00000684163.1:c.2204-1272_2204-1271del	ENSP00000508262.1:n.2204-1272_2204-1271del
ENST00000684196.1:n.4543-1272_4543-1271del
ENST00000684325.1:c.2186-9082_2186-9081del	ENSP00000508121.1:n.2186-9082_2186-9081del
ENST00000684385.1:c.2221-1272_2221-1271del	ENSP00000507855.1:n.2221-1272_2221-1271del
ENST00000684497.1:c.2186-8112_2186-8111del	ENSP00000507057.1:n.2186-8112_2186-8111del
ENST00000382292.9:c.13120_13121del MANE Select	ENSP00000371729.3:p.Arg4374GlyfsTer?
ENST00000423156.2:c.2186-1272_2186-1271del	ENSP00000390925.2:n.2186-1272_2186-1271del
ENST00000455470.6:c.2432-1272_2432-1271del	ENSP00000406565.2:n.2432-1272_2432-1271del
ENST00000382292.7:c.13120_13121del	ENSP00000371729.3:p.Arg4374GlyfsTer?
ENST00000382298.7:c.13120_13121del	ENSP00000371735.3:p.Arg4374GlyfsTer?
ENST00000402364.1:c.10870_10871del	ENSP00000385844.1:p.Arg3624GlyfsTer?
ENST00000423156.1:c.1058-1272_1058-1271del	ENSP00000390925.1:n.1058-1272_1058-1271del
ENST00000455470.5:c.2130-1272_2130-1271del
NM_001278055.1:c.12679_12680del	NP_001264984.1:p.Arg4227GlyfsTer?
NM_014363.5:c.13120_13121del	NP_055178.3:p.Arg4374GlyfsTer?
XM_005266338.1:c.13147_13148del	XP_005266395.1:p.Arg4383GlyfsTer?
XM_011535038.1:c.13171_13172del	XP_011533340.1:p.Arg4391GlyfsTer?
XM_011535039.1:c.13138_13139del	XP_011533341.1:p.Arg4380GlyfsTer?
XM_005266338.2:c.13147_13148del	XP_005266395.1:p.Arg4383GlyfsTer?
XM_011535039.2:c.13138_13139del	XP_011533341.1:p.Arg4380GlyfsTer?
XM_017020539.1:c.13111_13112del	XP_016876028.1:p.Arg4371GlyfsTer?
XM_024449337.1:c.13147_13148del	XP_024305105.1:p.Arg4383GlyfsTer?
NM_014363.6:c.13120_13121del MANE Select	NP_055178.3:p.Arg4374GlyfsTer?
NM_001278055.2:c.12679_12680del	NP_001264984.1:p.Arg4227GlyfsTer?