Canonical Allele Identifier: CA2078623586

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335531_23335532delinsGC , CM000675.2:g.23335531_23335532delinsGC	GRCh38
NC_000013.10:g.23909670_23909671delinsGC , CM000675.1:g.23909670_23909671delinsGC	GRCh37
NC_000013.9:g.22807670_22807671delinsGC	NCBI36
NG_012342.1:g.103171_103172delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18253_2185+18254delinsGC	ENSP00000508399.1:n.2185+18253_2185+18254delinsGC
ENST00000682944.1:c.8371_8372delinsGC	ENSP00000507173.1:p.Ala2791=
ENST00000683210.1:c.2185+18253_2185+18254delinsGC	ENSP00000506739.1:n.2185+18253_2185+18254delinsGC
ENST00000683270.1:c.6445+1890_6445+1891delinsGC	ENSP00000507624.1:n.6445+1890_6445+1891delinsGC
ENST00000683367.1:c.2177-6048_2177-6047delinsGC	ENSP00000507780.1:n.2177-6048_2177-6047delinsGC
ENST00000683489.1:c.2292-5580_2292-5579delinsGC	ENSP00000508403.1:n.2292-5580_2292-5579delinsGC
ENST00000683680.1:c.2319-5580_2319-5579delinsGC	ENSP00000507223.1:n.2319-5580_2319-5579delinsGC
ENST00000684163.1:c.2204-6048_2204-6047delinsGC	ENSP00000508262.1:n.2204-6048_2204-6047delinsGC
ENST00000684196.1:n.4543-6048_4543-6047delinsGC
ENST00000684325.1:c.2186-13858_2186-13857delinsGC	ENSP00000508121.1:n.2186-13858_2186-13857delinsGC
ENST00000684385.1:c.2221-6048_2221-6047delinsGC	ENSP00000507855.1:n.2221-6048_2221-6047delinsGC
ENST00000684497.1:c.2186-12888_2186-12887delinsGC	ENSP00000507057.1:n.2186-12888_2186-12887delinsGC
ENST00000382292.9:c.8344_8345delinsGC MANE Select	ENSP00000371729.3:p.Ala2782=
ENST00000423156.2:c.2186-6048_2186-6047delinsGC	ENSP00000390925.2:n.2186-6048_2186-6047delinsGC
ENST00000455470.6:c.2431+5913_2431+5914delinsGC	ENSP00000406565.2:n.2431+5913_2431+5914delinsGC
ENST00000382292.7:c.8344_8345delinsGC	ENSP00000371729.3:p.Ala2782=
ENST00000382298.7:c.8344_8345delinsGC	ENSP00000371735.3:p.Ala2782=
ENST00000402364.1:c.6094_6095delinsGC	ENSP00000385844.1:p.Ala2032=
ENST00000423156.1:c.1058-6048_1058-6047delinsGC	ENSP00000390925.1:n.1058-6048_1058-6047delinsGC
ENST00000455470.5:c.2129+5913_2129+5914delinsGC
NM_001278055.1:c.7903_7904delinsGC	NP_001264984.1:p.Ala2635=
NM_014363.5:c.8344_8345delinsGC	NP_055178.3:p.Ala2782=
XM_005266338.1:c.8371_8372delinsGC	XP_005266395.1:p.Ala2791=
XM_011535038.1:c.8395_8396delinsGC	XP_011533340.1:p.Ala2799=
XM_011535039.1:c.8362_8363delinsGC	XP_011533341.1:p.Ala2788=
XM_005266338.2:c.8371_8372delinsGC	XP_005266395.1:p.Ala2791=
XM_011535039.2:c.8362_8363delinsGC	XP_011533341.1:p.Ala2788=
XM_017020539.1:c.8335_8336delinsGC	XP_016876028.1:p.Ala2779=
XM_024449337.1:c.8371_8372delinsGC	XP_024305105.1:p.Ala2791=
NM_014363.6:c.8344_8345delinsGC MANE Select	NP_055178.3:p.Ala2782=
NM_001278055.2:c.7903_7904delinsGC	NP_001264984.1:p.Ala2635=