Canonical Allele Identifier: CA2832576917

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720280dup , CM000684.2:g.50720280dup	GRCh38
NC_000022.10:g.51158708dup , CM000684.1:g.51158708dup	GRCh37
NC_000022.9:g.49505574dup	NCBI36
NG_008607.2:g.50926dup
NG_070230.1:g.56064dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2048dup	ENSP00000489147.2:p.Pro684AlafsTer?
ENST00000414786.7:n.2632dup
ENST00000445220.7:c.1100dup	ENSP00000489407.2:p.Pro368AlafsTer?
ENST00000664402.2:c.590dup	ENSP00000499475.1:p.Pro198AlafsTer?
ENST00000673971.2:c.*1046dup	ENSP00000501192.1:n.*1046dup
ENST00000445220.6:c.1100dup	ENSP00000489407.2:p.Pro368AlafsTer?
ENST00000262795.6:c.2048dup	ENSP00000489147.2:p.Pro684AlafsTer?
ENST00000664402.1:c.590dup	ENSP00000499475.1:p.Pro198AlafsTer?
ENST00000673971.1:c.*1046dup	ENSP00000501192.1:n.*1046dup
ENST00000262795.5:c.2444dup	ENSP00000489147.1:p.Pro816AlafsTer?
ENST00000414786.6:n.2632dup
ENST00000445220.5:c.2426dup	ENSP00000489407.1:p.Pro810AlafsTer?