Canonical Allele Identifier: CA2078624945

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336188_23336200delinsAAACAGATTTCTG , CM000675.2:g.23336188_23336200delinsAAACAGATTTCTG	GRCh38
NC_000013.10:g.23910327_23910339delinsAAACAGATTTCTG , CM000675.1:g.23910327_23910339delinsAAACAGATTTCTG	GRCh37
NC_000013.9:g.22808327_22808339delinsAAACAGATTTCTG	NCBI36
NG_012342.1:g.102503_102515delinsCAGAAATCTGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17585_2185+17597delinsCAGAAATCTGTTT	ENSP00000508399.1:n.2185+17585_2185+17597delinsCAGAAATCTGTTT
ENST00000682944.1:c.7703_7715delinsCAGAAATCTGTTT	ENSP00000507173.1:p.Thr2568=
ENST00000683210.1:c.2185+17585_2185+17597delinsCAGAAATCTGTTT	ENSP00000506739.1:n.2185+17585_2185+17597delinsCAGAAATCTGTTT
ENST00000683270.1:c.6445+1222_6445+1234delinsCAGAAATCTGTTT	ENSP00000507624.1:n.6445+1222_6445+1234delinsCAGAAATCTGTTT
ENST00000683367.1:c.2177-6716_2177-6704delinsCAGAAATCTGTTT	ENSP00000507780.1:n.2177-6716_2177-6704delinsCAGAAATCTGTTT
ENST00000683489.1:c.2291+5385_2291+5397delinsCAGAAATCTGTTT	ENSP00000508403.1:n.2291+5385_2291+5397delinsCAGAAATCTGTTT
ENST00000683680.1:c.2318+5385_2318+5397delinsCAGAAATCTGTTT	ENSP00000507223.1:n.2318+5385_2318+5397delinsCAGAAATCTGTTT
ENST00000684163.1:c.2204-6716_2204-6704delinsCAGAAATCTGTTT	ENSP00000508262.1:n.2204-6716_2204-6704delinsCAGAAATCTGTTT
ENST00000684196.1:n.4543-6716_4543-6704delinsCAGAAATCTGTTT
ENST00000684325.1:c.2186-14526_2186-14514delinsCAGAAATCTGTTT	ENSP00000508121.1:n.2186-14526_2186-14514delinsCAGAAATCTGTTT
ENST00000684385.1:c.2221-6716_2221-6704delinsCAGAAATCTGTTT	ENSP00000507855.1:n.2221-6716_2221-6704delinsCAGAAATCTGTTT
ENST00000684497.1:c.2186-13556_2186-13544delinsCAGAAATCTGTTT	ENSP00000507057.1:n.2186-13556_2186-13544delinsCAGAAATCTGTTT
ENST00000382292.9:c.7676_7688delinsCAGAAATCTGTTT MANE Select	ENSP00000371729.3:p.Thr2559=
ENST00000423156.2:c.2186-6716_2186-6704delinsCAGAAATCTGTTT	ENSP00000390925.2:n.2186-6716_2186-6704delinsCAGAAATCTGTTT
ENST00000455470.6:c.2431+5245_2431+5257delinsCAGAAATCTGTTT	ENSP00000406565.2:n.2431+5245_2431+5257delinsCAGAAATCTGTTT
ENST00000382292.7:c.7676_7688delinsCAGAAATCTGTTT	ENSP00000371729.3:p.Thr2559=
ENST00000382298.7:c.7676_7688delinsCAGAAATCTGTTT	ENSP00000371735.3:p.Thr2559=
ENST00000402364.1:c.5426_5438delinsCAGAAATCTGTTT	ENSP00000385844.1:p.Thr1809=
ENST00000423156.1:c.1058-6716_1058-6704delinsCAGAAATCTGTTT	ENSP00000390925.1:n.1058-6716_1058-6704delinsCAGAAATCTGTTT
ENST00000455470.5:c.2129+5245_2129+5257delinsCAGAAATCTGTTT
NM_001278055.1:c.7235_7247delinsCAGAAATCTGTTT	NP_001264984.1:p.Thr2412=
NM_014363.5:c.7676_7688delinsCAGAAATCTGTTT	NP_055178.3:p.Thr2559=
XM_005266338.1:c.7703_7715delinsCAGAAATCTGTTT	XP_005266395.1:p.Thr2568=
XM_011535038.1:c.7727_7739delinsCAGAAATCTGTTT	XP_011533340.1:p.Thr2576=
XM_011535039.1:c.7694_7706delinsCAGAAATCTGTTT	XP_011533341.1:p.Thr2565=
XM_005266338.2:c.7703_7715delinsCAGAAATCTGTTT	XP_005266395.1:p.Thr2568=
XM_011535039.2:c.7694_7706delinsCAGAAATCTGTTT	XP_011533341.1:p.Thr2565=
XM_017020539.1:c.7667_7679delinsCAGAAATCTGTTT	XP_016876028.1:p.Thr2556=
XM_024449337.1:c.7703_7715delinsCAGAAATCTGTTT	XP_024305105.1:p.Thr2568=
NM_014363.6:c.7676_7688delinsCAGAAATCTGTTT MANE Select	NP_055178.3:p.Thr2559=
NM_001278055.2:c.7235_7247delinsCAGAAATCTGTTT	NP_001264984.1:p.Thr2412=