Canonical Allele Identifier: CA2841608993

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721930dup , CM000684.2:g.50721930dup	GRCh38
NC_000022.10:g.51160358dup , CM000684.1:g.51160358dup	GRCh37
NC_000022.9:g.49507224dup	NCBI36
NG_008607.2:g.52576dup
NG_070230.1:g.57714dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3698dup	ENSP00000489147.2:p.Ser1233ArgfsTer29
ENST00000414786.7:n.4282dup
ENST00000445220.7:c.2750dup	ENSP00000489407.2:p.Ser917ArgfsTer29
ENST00000664402.2:c.2240dup	ENSP00000499475.1:p.Ser747ArgfsTer29
ENST00000673971.2:c.*2696dup	ENSP00000501192.1:n.*2696dup
ENST00000445220.6:c.2750dup	ENSP00000489407.2:p.Ser917ArgfsTer29
ENST00000262795.6:c.3698dup	ENSP00000489147.2:p.Ser1233ArgfsTer29
ENST00000664402.1:c.2240dup	ENSP00000499475.1:p.Ser747ArgfsTer29
ENST00000673971.1:c.*2696dup	ENSP00000501192.1:n.*2696dup
ENST00000262795.5:c.4094dup	ENSP00000489147.1:p.Ser1365ArgfsTer29
ENST00000414786.6:n.4282dup
ENST00000445220.5:c.4076dup	ENSP00000489407.1:p.Ser1359ArgfsTer29