Canonical Allele Identifier: CA912980122

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23909236_23909237insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335097_23335098insA , CM000675.2:g.23335097_23335098insA	GRCh38
NC_000013.10:g.23909236_23909237insA , CM000675.1:g.23909236_23909237insA	GRCh37
NC_000013.9:g.22807236_22807237insA	NCBI36
NG_012342.1:g.103605_103606insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18687_2185+18688insT	ENSP00000508399.1:n.2185+18687_2185+18688insT
ENST00000682944.1:c.8805_8806insT	ENSP00000507173.1:p.Ile2936TyrfsTer12
ENST00000683210.1:c.2185+18687_2185+18688insT	ENSP00000506739.1:n.2185+18687_2185+18688insT
ENST00000683270.1:c.6445+2324_6445+2325insT	ENSP00000507624.1:n.6445+2324_6445+2325insT
ENST00000683367.1:c.2177-5614_2177-5613insT	ENSP00000507780.1:n.2177-5614_2177-5613insT
ENST00000683489.1:c.2292-5146_2292-5145insT	ENSP00000508403.1:n.2292-5146_2292-5145insT
ENST00000683680.1:c.2319-5146_2319-5145insT	ENSP00000507223.1:n.2319-5146_2319-5145insT
ENST00000684163.1:c.2204-5614_2204-5613insT	ENSP00000508262.1:n.2204-5614_2204-5613insT
ENST00000684196.1:n.4543-5614_4543-5613insT
ENST00000684325.1:c.2186-13424_2186-13423insT	ENSP00000508121.1:n.2186-13424_2186-13423insT
ENST00000684385.1:c.2221-5614_2221-5613insT	ENSP00000507855.1:n.2221-5614_2221-5613insT
ENST00000684497.1:c.2186-12454_2186-12453insT	ENSP00000507057.1:n.2186-12454_2186-12453insT
ENST00000382292.9:c.8778_8779insT MANE Select	ENSP00000371729.3:p.Ile2927TyrfsTer12
ENST00000423156.2:c.2186-5614_2186-5613insT	ENSP00000390925.2:n.2186-5614_2186-5613insT
ENST00000455470.6:c.2432-5614_2432-5613insT	ENSP00000406565.2:n.2432-5614_2432-5613insT
ENST00000382292.7:c.8778_8779insT	ENSP00000371729.3:p.Ile2927TyrfsTer12
ENST00000382298.7:c.8778_8779insT	ENSP00000371735.3:p.Ile2927TyrfsTer12
ENST00000402364.1:c.6528_6529insT	ENSP00000385844.1:p.Ile2177TyrfsTer12
ENST00000423156.1:c.1058-5614_1058-5613insT	ENSP00000390925.1:n.1058-5614_1058-5613insT
ENST00000455470.5:c.2130-5614_2130-5613insT
NM_001278055.1:c.8337_8338insT	NP_001264984.1:p.Ile2780TyrfsTer12
NM_014363.5:c.8778_8779insT	NP_055178.3:p.Ile2927TyrfsTer12
XM_005266338.1:c.8805_8806insT	XP_005266395.1:p.Ile2936TyrfsTer12
XM_011535038.1:c.8829_8830insT	XP_011533340.1:p.Ile2944TyrfsTer12
XM_011535039.1:c.8796_8797insT	XP_011533341.1:p.Ile2933TyrfsTer12
XM_005266338.2:c.8805_8806insT	XP_005266395.1:p.Ile2936TyrfsTer12
XM_011535039.2:c.8796_8797insT	XP_011533341.1:p.Ile2933TyrfsTer12
XM_017020539.1:c.8769_8770insT	XP_016876028.1:p.Ile2924TyrfsTer12
XM_024449337.1:c.8805_8806insT	XP_024305105.1:p.Ile2936TyrfsTer12
NM_014363.6:c.8778_8779insT MANE Select	NP_055178.3:p.Ile2927TyrfsTer12
NM_001278055.2:c.8337_8338insT	NP_001264984.1:p.Ile2780TyrfsTer12