Canonical Allele Identifier: CA2078621237

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334428_23334429delinsCT , CM000675.2:g.23334428_23334429delinsCT	GRCh38
NC_000013.10:g.23908567_23908568delinsCT , CM000675.1:g.23908567_23908568delinsCT	GRCh37
NC_000013.9:g.22806567_22806568delinsCT	NCBI36
NG_012342.1:g.104274_104275delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19356_2185+19357delinsAG	ENSP00000508399.1:n.2185+19356_2185+19357delinsAG
ENST00000682944.1:c.9474_9475delinsAG	ENSP00000507173.1:p.Glu3158=
ENST00000683210.1:c.2185+19356_2185+19357delinsAG	ENSP00000506739.1:n.2185+19356_2185+19357delinsAG
ENST00000683270.1:c.6445+2993_6445+2994delinsAG	ENSP00000507624.1:n.6445+2993_6445+2994delinsAG
ENST00000683367.1:c.2177-4945_2177-4944delinsAG	ENSP00000507780.1:n.2177-4945_2177-4944delinsAG
ENST00000683489.1:c.2292-4477_2292-4476delinsAG	ENSP00000508403.1:n.2292-4477_2292-4476delinsAG
ENST00000683680.1:c.2319-4477_2319-4476delinsAG	ENSP00000507223.1:n.2319-4477_2319-4476delinsAG
ENST00000684163.1:c.2204-4945_2204-4944delinsAG	ENSP00000508262.1:n.2204-4945_2204-4944delinsAG
ENST00000684196.1:n.4543-4945_4543-4944delinsAG
ENST00000684325.1:c.2186-12755_2186-12754delinsAG	ENSP00000508121.1:n.2186-12755_2186-12754delinsAG
ENST00000684385.1:c.2221-4945_2221-4944delinsAG	ENSP00000507855.1:n.2221-4945_2221-4944delinsAG
ENST00000684497.1:c.2186-11785_2186-11784delinsAG	ENSP00000507057.1:n.2186-11785_2186-11784delinsAG
ENST00000382292.9:c.9447_9448delinsAG MANE Select	ENSP00000371729.3:p.Glu3149=
ENST00000423156.2:c.2186-4945_2186-4944delinsAG	ENSP00000390925.2:n.2186-4945_2186-4944delinsAG
ENST00000455470.6:c.2432-4945_2432-4944delinsAG	ENSP00000406565.2:n.2432-4945_2432-4944delinsAG
ENST00000382292.7:c.9447_9448delinsAG	ENSP00000371729.3:p.Glu3149=
ENST00000382298.7:c.9447_9448delinsAG	ENSP00000371735.3:p.Glu3149=
ENST00000402364.1:c.7197_7198delinsAG	ENSP00000385844.1:p.Glu2399=
ENST00000423156.1:c.1058-4945_1058-4944delinsAG	ENSP00000390925.1:n.1058-4945_1058-4944delinsAG
ENST00000455470.5:c.2130-4945_2130-4944delinsAG
NM_001278055.1:c.9006_9007delinsAG	NP_001264984.1:p.Glu3002=
NM_014363.5:c.9447_9448delinsAG	NP_055178.3:p.Glu3149=
XM_005266338.1:c.9474_9475delinsAG	XP_005266395.1:p.Glu3158=
XM_011535038.1:c.9498_9499delinsAG	XP_011533340.1:p.Glu3166=
XM_011535039.1:c.9465_9466delinsAG	XP_011533341.1:p.Glu3155=
XM_005266338.2:c.9474_9475delinsAG	XP_005266395.1:p.Glu3158=
XM_011535039.2:c.9465_9466delinsAG	XP_011533341.1:p.Glu3155=
XM_017020539.1:c.9438_9439delinsAG	XP_016876028.1:p.Glu3146=
XM_024449337.1:c.9474_9475delinsAG	XP_024305105.1:p.Glu3158=
NM_014363.6:c.9447_9448delinsAG MANE Select	NP_055178.3:p.Glu3149=
NM_001278055.2:c.9006_9007delinsAG	NP_001264984.1:p.Glu3002=