Canonical Allele Identifier: CA912980212

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23908567_23908568del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334428_23334429del , CM000675.2:g.23334428_23334429del	GRCh38
NC_000013.10:g.23908567_23908568del , CM000675.1:g.23908567_23908568del	GRCh37
NC_000013.9:g.22806567_22806568del	NCBI36
NG_012342.1:g.104274_104275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19356_2185+19357del	ENSP00000508399.1:n.2185+19356_2185+19357del
ENST00000682944.1:c.9474_9475del	ENSP00000507173.1:p.Glu3158AspfsTer2
ENST00000683210.1:c.2185+19356_2185+19357del	ENSP00000506739.1:n.2185+19356_2185+19357del
ENST00000683270.1:c.6445+2993_6445+2994del	ENSP00000507624.1:n.6445+2993_6445+2994del
ENST00000683367.1:c.2177-4945_2177-4944del	ENSP00000507780.1:n.2177-4945_2177-4944del
ENST00000683489.1:c.2292-4477_2292-4476del	ENSP00000508403.1:n.2292-4477_2292-4476del
ENST00000683680.1:c.2319-4477_2319-4476del	ENSP00000507223.1:n.2319-4477_2319-4476del
ENST00000684163.1:c.2204-4945_2204-4944del	ENSP00000508262.1:n.2204-4945_2204-4944del
ENST00000684196.1:n.4543-4945_4543-4944del
ENST00000684325.1:c.2186-12755_2186-12754del	ENSP00000508121.1:n.2186-12755_2186-12754del
ENST00000684385.1:c.2221-4945_2221-4944del	ENSP00000507855.1:n.2221-4945_2221-4944del
ENST00000684497.1:c.2186-11785_2186-11784del	ENSP00000507057.1:n.2186-11785_2186-11784del
ENST00000382292.9:c.9447_9448del MANE Select	ENSP00000371729.3:p.Glu3149AspfsTer2
ENST00000423156.2:c.2186-4945_2186-4944del	ENSP00000390925.2:n.2186-4945_2186-4944del
ENST00000455470.6:c.2432-4945_2432-4944del	ENSP00000406565.2:n.2432-4945_2432-4944del
ENST00000382292.7:c.9447_9448del	ENSP00000371729.3:p.Glu3149AspfsTer2
ENST00000382298.7:c.9447_9448del	ENSP00000371735.3:p.Glu3149AspfsTer2
ENST00000402364.1:c.7197_7198del	ENSP00000385844.1:p.Glu2399AspfsTer2
ENST00000423156.1:c.1058-4945_1058-4944del	ENSP00000390925.1:n.1058-4945_1058-4944del
ENST00000455470.5:c.2130-4945_2130-4944del
NM_001278055.1:c.9006_9007del	NP_001264984.1:p.Glu3002AspfsTer2
NM_014363.5:c.9447_9448del	NP_055178.3:p.Glu3149AspfsTer2
XM_005266338.1:c.9474_9475del	XP_005266395.1:p.Glu3158AspfsTer2
XM_011535038.1:c.9498_9499del	XP_011533340.1:p.Glu3166AspfsTer2
XM_011535039.1:c.9465_9466del	XP_011533341.1:p.Glu3155AspfsTer2
XM_005266338.2:c.9474_9475del	XP_005266395.1:p.Glu3158AspfsTer2
XM_011535039.2:c.9465_9466del	XP_011533341.1:p.Glu3155AspfsTer2
XM_017020539.1:c.9438_9439del	XP_016876028.1:p.Glu3146AspfsTer2
XM_024449337.1:c.9474_9475del	XP_024305105.1:p.Glu3158AspfsTer2
NM_014363.6:c.9447_9448del MANE Select	NP_055178.3:p.Glu3149AspfsTer2
NM_001278055.2:c.9006_9007del	NP_001264984.1:p.Glu3002AspfsTer2