Canonical Allele Identifier: CA2695217759

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23354972_23354978delinsAGTTGCA , CM000675.2:g.23354972_23354978delinsAGTTGCA	GRCh38
NC_000013.10:g.23929111_23929117delinsAGTTGCA , CM000675.1:g.23929111_23929117delinsAGTTGCA	GRCh37
NC_000013.9:g.22827111_22827117delinsAGTTGCA	NCBI36
NG_012342.1:g.83725_83731delinsTGCAACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1634_1640delinsTGCAACT	ENSP00000508399.1:p.Trp545_Pro547delinsLeuGlnLeu
ENST00000682944.1:c.1634_1640delinsTGCAACT	ENSP00000507173.1:p.Trp545_Pro547delinsLeuGlnLeu
ENST00000683154.1:n.1772_1778delinsTGCAACT
ENST00000683210.1:c.1634_1640delinsTGCAACT	ENSP00000506739.1:p.Trp545_Pro547delinsLeuGlnLeu
ENST00000683270.1:c.1625_1631delinsTGCAACT	ENSP00000507624.1:p.Trp542_Pro544delinsLeuGlnLeu
ENST00000683367.1:c.1625_1631delinsTGCAACT	ENSP00000507780.1:p.Trp542_Pro544delinsLeuGlnLeu
ENST00000683489.1:c.1634_1640delinsTGCAACT	ENSP00000508403.1:p.Trp545_Pro547delinsLeuGlnLeu
ENST00000683680.1:c.1634_1640delinsTGCAACT	ENSP00000507223.1:p.Trp545_Pro547delinsLeuGlnLeu
ENST00000684163.1:c.1625_1631delinsTGCAACT	ENSP00000508262.1:p.Trp542_Pro544delinsLeuGlnLeu
ENST00000684196.1:n.3991_3997delinsTGCAACT
ENST00000684325.1:c.1634_1640delinsTGCAACT	ENSP00000508121.1:p.Trp545_Pro547delinsLeuGlnLeu
ENST00000684385.1:c.1634_1640delinsTGCAACT	ENSP00000507855.1:p.Trp545_Pro547delinsLeuGlnLeu
ENST00000684497.1:c.1634_1640delinsTGCAACT	ENSP00000507057.1:p.Trp545_Pro547delinsLeuGlnLeu
ENST00000382292.9:c.1634_1640delinsTGCAACT MANE Select	ENSP00000371729.3:p.Trp545_Pro547delinsLeuGlnLeu
ENST00000423156.2:c.1634_1640delinsTGCAACT	ENSP00000390925.2:p.Trp545_Pro547delinsLeuGlnLeu
ENST00000455470.6:c.1634_1640delinsTGCAACT	ENSP00000406565.2:p.Trp545_Pro547delinsLeuGlnLeu
ENST00000382292.7:c.1634_1640delinsTGCAACT	ENSP00000371729.3:p.Trp545_Pro547delinsLeuGlnLeu
ENST00000382298.7:c.1634_1640delinsTGCAACT	ENSP00000371735.3:p.Trp545_Pro547delinsLeuGlnLeu
ENST00000402364.1:c.-617_-611delinsTGCAACT	ENSP00000385844.1:n.-617_-611delinsTGCAACT
ENST00000423156.1:c.506_512delinsTGCAACT	ENSP00000390925.1:p.Trp169_Pro171delinsLeuGlnLeu
ENST00000455470.5:c.1332_1338delinsTGCAACT
NM_001278055.1:c.1193_1199delinsTGCAACT	NP_001264984.1:p.Trp398_Pro400delinsLeuGlnLeu
NM_014363.5:c.1634_1640delinsTGCAACT	NP_055178.3:p.Trp545_Pro547delinsLeuGlnLeu
XM_005266338.1:c.1634_1640delinsTGCAACT	XP_005266395.1:p.Trp545_Pro547delinsLeuGlnLeu
XM_011535038.1:c.1658_1664delinsTGCAACT	XP_011533340.1:p.Trp553_Pro555delinsLeuGlnLeu
XM_011535039.1:c.1625_1631delinsTGCAACT	XP_011533341.1:p.Trp542_Pro544delinsLeuGlnLeu
XM_005266338.2:c.1634_1640delinsTGCAACT	XP_005266395.1:p.Trp545_Pro547delinsLeuGlnLeu
XM_011535039.2:c.1625_1631delinsTGCAACT	XP_011533341.1:p.Trp542_Pro544delinsLeuGlnLeu
XM_017020539.1:c.1625_1631delinsTGCAACT	XP_016876028.1:p.Trp542_Pro544delinsLeuGlnLeu
XM_024449337.1:c.1634_1640delinsTGCAACT	XP_024305105.1:p.Trp545_Pro547delinsLeuGlnLeu
NM_014363.6:c.1634_1640delinsTGCAACT MANE Select	NP_055178.3:p.Trp545_Pro547delinsLeuGlnLeu
NM_001278055.2:c.1193_1199delinsTGCAACT	NP_001264984.1:p.Trp398_Pro400delinsLeuGlnLeu