Canonical Allele Identifier: CA912980213

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23908635_23908640del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334498_23334503del , CM000675.2:g.23334498_23334503del	GRCh38
NC_000013.10:g.23908637_23908642del , CM000675.1:g.23908637_23908642del	GRCh37
NC_000013.9:g.22806637_22806642del	NCBI36
NG_012342.1:g.104202_104207del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+19284_2185+19289del	ENSP00000508399.1:n.2185+19284_2185+19289...
ENST00000682944.1:c.9402_9407del	ENSP00000507173.1:p.Asn3134_Leu3135del
ENST00000683210.1:c.2185+19284_2185+19289del	ENSP00000506739.1:n.2185+19284_2185+19289...
ENST00000683270.1:c.6445+2921_6445+2926del	ENSP00000507624.1:n.6445+2921_6445+2926de...
ENST00000683367.1:c.2177-5017_2177-5012del	ENSP00000507780.1:n.2177-5017_2177-5012de...
ENST00000683489.1:c.2292-4549_2292-4544del	ENSP00000508403.1:n.2292-4549_2292-4544de...
ENST00000683680.1:c.2319-4549_2319-4544del	ENSP00000507223.1:n.2319-4549_2319-4544de...
ENST00000684163.1:c.2204-5017_2204-5012del	ENSP00000508262.1:n.2204-5017_2204-5012de...
ENST00000684196.1:n.4543-5017_4543-5012del
ENST00000684325.1:c.2186-12827_2186-12822del	ENSP00000508121.1:n.2186-12827_2186-12822...
ENST00000684385.1:c.2221-5017_2221-5012del	ENSP00000507855.1:n.2221-5017_2221-5012de...
ENST00000684497.1:c.2186-11857_2186-11852del	ENSP00000507057.1:n.2186-11857_2186-11852...
ENST00000382292.9:c.9375_9380del MANE Select	ENSP00000371729.3:p.Asn3125_Leu3126del
ENST00000423156.2:c.2186-5017_2186-5012del	ENSP00000390925.2:n.2186-5017_2186-5012de...
ENST00000455470.6:c.2432-5017_2432-5012del	ENSP00000406565.2:n.2432-5017_2432-5012de...
ENST00000382292.7:c.9375_9380del	ENSP00000371729.3:p.Asn3125_Leu3126del
ENST00000382298.7:c.9375_9380del	ENSP00000371735.3:p.Asn3125_Leu3126del
ENST00000402364.1:c.7125_7130del	ENSP00000385844.1:p.Asn2375_Leu2376del
ENST00000423156.1:c.1058-5017_1058-5012del	ENSP00000390925.1:n.1058-5017_1058-5012de...
ENST00000455470.5:c.2130-5017_2130-5012del
NM_001278055.1:c.8934_8939del	NP_001264984.1:p.Asn2978_Leu2979del
NM_014363.5:c.9375_9380del	NP_055178.3:p.Asn3125_Leu3126del
XM_005266338.1:c.9402_9407del	XP_005266395.1:p.Asn3134_Leu3135del
XM_011535038.1:c.9426_9431del	XP_011533340.1:p.Asn3142_Leu3143del
XM_011535039.1:c.9393_9398del	XP_011533341.1:p.Asn3131_Leu3132del
XM_005266338.2:c.9402_9407del	XP_005266395.1:p.Asn3134_Leu3135del
XM_011535039.2:c.9393_9398del	XP_011533341.1:p.Asn3131_Leu3132del
XM_017020539.1:c.9366_9371del	XP_016876028.1:p.Asn3122_Leu3123del
XM_024449337.1:c.9402_9407del	XP_024305105.1:p.Asn3134_Leu3135del
NM_014363.6:c.9375_9380del MANE Select	NP_055178.3:p.Asn3125_Leu3126del
NM_001278055.2:c.8934_8939del	NP_001264984.1:p.Asn2978_Leu2979del