Canonical Allele Identifier: CA608985214

Gene: SACS

Linked Data

• dbSNP Id: rs1426615629
• gnomAD v2: 13-23905040-TCG-T
• MyVariant Identifiers: chr13:g.23905041_23905042del (hg19) ; chr13:g.23330902_23330903del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330902_23330903del , CM000675.2:g.23330902_23330903del	GRCh38
NC_000013.10:g.23905041_23905042del , CM000675.1:g.23905041_23905042del	GRCh37
NC_000013.9:g.22803041_22803042del	NCBI36
NG_012342.1:g.107800_107801del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18788_2186-18787del	ENSP00000508399.1:n.2186-18788_2186-18787del
ENST00000682944.1:c.13000_13001del	ENSP00000507173.1:p.Arg4334LysfsTer5
ENST00000683210.1:c.2185+22882_2185+22883del	ENSP00000506739.1:n.2185+22882_2185+22883del
ENST00000683270.1:c.6446-1419_6446-1418del	ENSP00000507624.1:n.6446-1419_6446-1418del
ENST00000683367.1:c.2177-1419_2177-1418del	ENSP00000507780.1:n.2177-1419_2177-1418del
ENST00000683489.1:c.2292-951_2292-950del	ENSP00000508403.1:n.2292-951_2292-950del
ENST00000683680.1:c.2319-951_2319-950del	ENSP00000507223.1:n.2319-951_2319-950del
ENST00000684163.1:c.2204-1419_2204-1418del	ENSP00000508262.1:n.2204-1419_2204-1418del
ENST00000684196.1:n.4543-1419_4543-1418del
ENST00000684325.1:c.2186-9229_2186-9228del	ENSP00000508121.1:n.2186-9229_2186-9228del
ENST00000684385.1:c.2221-1419_2221-1418del	ENSP00000507855.1:n.2221-1419_2221-1418del
ENST00000684497.1:c.2186-8259_2186-8258del	ENSP00000507057.1:n.2186-8259_2186-8258del
ENST00000382292.9:c.12973_12974del MANE Select	ENSP00000371729.3:p.Arg4325LysfsTer5
ENST00000423156.2:c.2186-1419_2186-1418del	ENSP00000390925.2:n.2186-1419_2186-1418del
ENST00000455470.6:c.2432-1419_2432-1418del	ENSP00000406565.2:n.2432-1419_2432-1418del
ENST00000382292.7:c.12973_12974del	ENSP00000371729.3:p.Arg4325LysfsTer5
ENST00000382298.7:c.12973_12974del	ENSP00000371735.3:p.Arg4325LysfsTer5
ENST00000402364.1:c.10723_10724del	ENSP00000385844.1:p.Arg3575LysfsTer5
ENST00000423156.1:c.1058-1419_1058-1418del	ENSP00000390925.1:n.1058-1419_1058-1418del
ENST00000455470.5:c.2130-1419_2130-1418del
NM_001278055.1:c.12532_12533del	NP_001264984.1:p.Arg4178LysfsTer5
NM_014363.5:c.12973_12974del	NP_055178.3:p.Arg4325LysfsTer5
XM_005266338.1:c.13000_13001del	XP_005266395.1:p.Arg4334LysfsTer5
XM_011535038.1:c.13024_13025del	XP_011533340.1:p.Arg4342LysfsTer5
XM_011535039.1:c.12991_12992del	XP_011533341.1:p.Arg4331LysfsTer5
XM_005266338.2:c.13000_13001del	XP_005266395.1:p.Arg4334LysfsTer5
XM_011535039.2:c.12991_12992del	XP_011533341.1:p.Arg4331LysfsTer5
XM_017020539.1:c.12964_12965del	XP_016876028.1:p.Arg4322LysfsTer5
XM_024449337.1:c.13000_13001del	XP_024305105.1:p.Arg4334LysfsTer5
NM_014363.6:c.12973_12974del MANE Select	NP_055178.3:p.Arg4325LysfsTer5
NM_001278055.2:c.12532_12533del	NP_001264984.1:p.Arg4178LysfsTer5