Canonical Allele Identifier: CA2819325450

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697634_50697635del , CM000684.2:g.50697634_50697635del	GRCh38
NC_000022.10:g.51136062_51136063del , CM000684.1:g.51136062_51136063del	GRCh37
NC_000022.9:g.49482928_49482929del	NCBI36
NG_008607.2:g.28280_28281del
NG_070230.1:g.33499_33500del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1018_1019del	ENSP00000489147.2:p.Gly340ProfsTer14
ENST00000414786.7:n.1602_1603del
ENST00000445220.7:c.70_71del	ENSP00000489407.2:p.Gly24ProfsTer14
ENST00000673971.2:c.1375_1376del	ENSP00000501192.1:p.Gly459ProfsTer14
ENST00000445220.6:c.70_71del	ENSP00000489407.2:p.Gly24ProfsTer14
ENST00000262795.6:c.1018_1019del	ENSP00000489147.2:p.Gly340ProfsTer14
ENST00000673971.1:c.1375_1376del	ENSP00000501192.1:p.Gly459ProfsTer14
ENST00000673995.1:c.71_72del
ENST00000262795.5:c.1414_1415del	ENSP00000489147.1:p.Gly472ProfsTer14
ENST00000414786.6:n.1602_1603del
ENST00000445220.5:c.1396_1397del	ENSP00000489407.1:p.Gly466ProfsTer14