Canonical Allele Identifier: CA2567595048

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355399_23355400insTTTT , CM000675.2:g.23355399_23355400insTTTT	GRCh38
NC_000013.10:g.23929538_23929539insTTTT , CM000675.1:g.23929538_23929539insTTTT	GRCh37
NC_000013.9:g.22827538_22827539insTTTT	NCBI36
NG_012342.1:g.83304_83305insAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1213_1214insAAAA	ENSP00000508399.1:p.Ser405LysfsTer3
ENST00000682944.1:c.1213_1214insAAAA	ENSP00000507173.1:p.Ser405LysfsTer3
ENST00000683154.1:n.1351_1352insAAAA
ENST00000683210.1:c.1213_1214insAAAA	ENSP00000506739.1:p.Ser405LysfsTer3
ENST00000683270.1:c.1204_1205insAAAA	ENSP00000507624.1:p.Ser402LysfsTer3
ENST00000683367.1:c.1204_1205insAAAA	ENSP00000507780.1:p.Ser402LysfsTer3
ENST00000683489.1:c.1213_1214insAAAA	ENSP00000508403.1:p.Ser405LysfsTer3
ENST00000683680.1:c.1213_1214insAAAA	ENSP00000507223.1:p.Ser405LysfsTer3
ENST00000684163.1:c.1204_1205insAAAA	ENSP00000508262.1:p.Ser402LysfsTer3
ENST00000684196.1:n.3570_3571insAAAA
ENST00000684325.1:c.1213_1214insAAAA	ENSP00000508121.1:p.Ser405LysfsTer3
ENST00000684385.1:c.1213_1214insAAAA	ENSP00000507855.1:p.Ser405LysfsTer3
ENST00000684497.1:c.1213_1214insAAAA	ENSP00000507057.1:p.Ser405LysfsTer3
ENST00000382292.9:c.1213_1214insAAAA MANE Select	ENSP00000371729.3:p.Ser405LysfsTer3
ENST00000423156.2:c.1213_1214insAAAA	ENSP00000390925.2:p.Ser405LysfsTer3
ENST00000455470.6:c.1213_1214insAAAA	ENSP00000406565.2:p.Ser405LysfsTer3
ENST00000382292.7:c.1213_1214insAAAA	ENSP00000371729.3:p.Ser405LysfsTer3
ENST00000382298.7:c.1213_1214insAAAA	ENSP00000371735.3:p.Ser405LysfsTer3
ENST00000402364.1:c.-1038_-1037insAAAA	ENSP00000385844.1:n.-1038_-1037insAAAA
ENST00000423156.1:c.85_86insAAAA	ENSP00000390925.1:p.Ser29LysfsTer3
ENST00000455470.5:c.911_912insAAAA
NM_001278055.1:c.772_773insAAAA	NP_001264984.1:p.Ser258LysfsTer3
NM_014363.5:c.1213_1214insAAAA	NP_055178.3:p.Ser405LysfsTer3
XM_005266338.1:c.1213_1214insAAAA	XP_005266395.1:p.Ser405LysfsTer3
XM_011535038.1:c.1237_1238insAAAA	XP_011533340.1:p.Ser413LysfsTer3
XM_011535039.1:c.1204_1205insAAAA	XP_011533341.1:p.Ser402LysfsTer3
XM_005266338.2:c.1213_1214insAAAA	XP_005266395.1:p.Ser405LysfsTer3
XM_011535039.2:c.1204_1205insAAAA	XP_011533341.1:p.Ser402LysfsTer3
XM_017020539.1:c.1204_1205insAAAA	XP_016876028.1:p.Ser402LysfsTer3
XM_024449337.1:c.1213_1214insAAAA	XP_024305105.1:p.Ser405LysfsTer3
NM_014363.6:c.1213_1214insAAAA MANE Select	NP_055178.3:p.Ser405LysfsTer3
NM_001278055.2:c.772_773insAAAA	NP_001264984.1:p.Ser258LysfsTer3