Canonical Allele Identifier: CA2819325443

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697588_50697599del , CM000684.2:g.50697588_50697599del	GRCh38
NC_000022.10:g.51136016_51136027del , CM000684.1:g.51136016_51136027del	GRCh37
NC_000022.9:g.49482882_49482893del	NCBI36
NG_008607.2:g.28234_28245del
NG_070230.1:g.33453_33464del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.972_983del	ENSP00000489147.2:p.Pro325_Arg328del
ENST00000414786.7:n.1556_1567del
ENST00000445220.7:c.24_35del	ENSP00000489407.2:p.Pro9_Arg12del
ENST00000673971.2:c.1329_1340del	ENSP00000501192.1:p.Pro444_Arg447del
ENST00000445220.6:c.24_35del	ENSP00000489407.2:p.Pro9_Arg12del
ENST00000262795.6:c.972_983del	ENSP00000489147.2:p.Pro325_Arg328del
ENST00000673971.1:c.1329_1340del	ENSP00000501192.1:p.Pro444_Arg447del
ENST00000673995.1:c.25_36del
ENST00000262795.5:c.1368_1379del	ENSP00000489147.1:p.Pro457_Arg460del
ENST00000414786.6:n.1556_1567del
ENST00000445220.5:c.1350_1361del	ENSP00000489407.1:p.Pro451_Arg454del