Canonical Allele Identifier: CA608985213

Gene: SACS

Linked Data

• dbSNP Id: rs1566054944
• gnomAD v2: 13-23904843-TTGTC-T
• gnomAD v4: 13-23330704-TTGTC-T
• MyVariant Identifiers: chr13:g.23904844_23904847del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330707_23330710del , CM000675.2:g.23330707_23330710del	GRCh38
NC_000013.10:g.23904846_23904849del , CM000675.1:g.23904846_23904849del	GRCh37
NC_000013.9:g.22802846_22802849del	NCBI36
NG_012342.1:g.107995_107998del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18593_2186-18590del	ENSP00000508399.1:n.2186-18593_2186-18590del
ENST00000682944.1:c.13195_13198del	ENSP00000507173.1:p.Asp4399AsnfsTer?
ENST00000683210.1:c.2185+23077_2185+23080del	ENSP00000506739.1:n.2185+23077_2185+23080del
ENST00000683270.1:c.6446-1224_6446-1221del	ENSP00000507624.1:n.6446-1224_6446-1221del
ENST00000683367.1:c.2177-1224_2177-1221del	ENSP00000507780.1:n.2177-1224_2177-1221del
ENST00000683489.1:c.2292-756_2292-753del	ENSP00000508403.1:n.2292-756_2292-753del
ENST00000683680.1:c.2319-756_2319-753del	ENSP00000507223.1:n.2319-756_2319-753del
ENST00000684163.1:c.2204-1224_2204-1221del	ENSP00000508262.1:n.2204-1224_2204-1221del
ENST00000684196.1:n.4543-1224_4543-1221del
ENST00000684325.1:c.2186-9034_2186-9031del	ENSP00000508121.1:n.2186-9034_2186-9031del
ENST00000684385.1:c.2221-1224_2221-1221del	ENSP00000507855.1:n.2221-1224_2221-1221del
ENST00000684497.1:c.2186-8064_2186-8061del	ENSP00000507057.1:n.2186-8064_2186-8061del
ENST00000382292.9:c.13168_13171del MANE Select	ENSP00000371729.3:p.Asp4390AsnfsTer?
ENST00000423156.2:c.2186-1224_2186-1221del	ENSP00000390925.2:n.2186-1224_2186-1221del
ENST00000455470.6:c.2432-1224_2432-1221del	ENSP00000406565.2:n.2432-1224_2432-1221del
ENST00000382292.7:c.13168_13171del	ENSP00000371729.3:p.Asp4390AsnfsTer?
ENST00000382298.7:c.13168_13171del	ENSP00000371735.3:p.Asp4390AsnfsTer?
ENST00000402364.1:c.10918_10921del	ENSP00000385844.1:p.Asp3640AsnfsTer?
ENST00000423156.1:c.1058-1224_1058-1221del	ENSP00000390925.1:n.1058-1224_1058-1221del
ENST00000455470.5:c.2130-1224_2130-1221del
NM_001278055.1:c.12727_12730del	NP_001264984.1:p.Asp4243AsnfsTer?
NM_014363.5:c.13168_13171del	NP_055178.3:p.Asp4390AsnfsTer?
XM_005266338.1:c.13195_13198del	XP_005266395.1:p.Asp4399AsnfsTer?
XM_011535038.1:c.13219_13222del	XP_011533340.1:p.Asp4407AsnfsTer?
XM_011535039.1:c.13186_13189del	XP_011533341.1:p.Asp4396AsnfsTer?
XM_005266338.2:c.13195_13198del	XP_005266395.1:p.Asp4399AsnfsTer?
XM_011535039.2:c.13186_13189del	XP_011533341.1:p.Asp4396AsnfsTer?
XM_017020539.1:c.13159_13162del	XP_016876028.1:p.Asp4387AsnfsTer?
XM_024449337.1:c.13195_13198del	XP_024305105.1:p.Asp4399AsnfsTer?
NM_014363.6:c.13168_13171del MANE Select	NP_055178.3:p.Asp4390AsnfsTer?
NM_001278055.2:c.12727_12730del	NP_001264984.1:p.Asp4243AsnfsTer?