Canonical Allele Identifier: CA2841608992

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721853dup , CM000684.2:g.50721853dup	GRCh38
NC_000022.10:g.51160281dup , CM000684.1:g.51160281dup	GRCh37
NC_000022.9:g.49507147dup	NCBI36
NG_008607.2:g.52499dup
NG_070230.1:g.57637dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3621dup	ENSP00000489147.2:p.Pro1208AlafsTer4
ENST00000414786.7:n.4205dup
ENST00000445220.7:c.2673dup	ENSP00000489407.2:p.Pro892AlafsTer4
ENST00000664402.2:c.2163dup	ENSP00000499475.1:p.Pro722AlafsTer4
ENST00000673971.2:c.*2619dup	ENSP00000501192.1:n.*2619dup
ENST00000445220.6:c.2673dup	ENSP00000489407.2:p.Pro892AlafsTer4
ENST00000262795.6:c.3621dup	ENSP00000489147.2:p.Pro1208AlafsTer4
ENST00000664402.1:c.2163dup	ENSP00000499475.1:p.Pro722AlafsTer4
ENST00000673971.1:c.*2619dup	ENSP00000501192.1:n.*2619dup
ENST00000262795.5:c.4017dup	ENSP00000489147.1:p.Pro1340AlafsTer4
ENST00000414786.6:n.4205dup
ENST00000445220.5:c.3999dup	ENSP00000489407.1:p.Pro1334AlafsTer4