Canonical Allele Identifier: CA2564055433

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697595_50697596insTGGCGGGAGCGGG , CM000684.2:g.50697595_50697596insTGGCGGGAGCGGG	GRCh38
NC_000022.10:g.51136023_51136024insTGGCGGGAGCGGG , CM000684.1:g.51136023_51136024insTGGCGGGAGCGGG	GRCh37
NC_000022.9:g.49482889_49482890insTGGCGGGAGCGGG	NCBI36
NG_008607.2:g.28241_28242insTGGCGGGAGCGGG
NG_070230.1:g.33460_33461insTGGCGGGAGCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.979_980insTGGCGGGAGCGGG	ENSP00000489147.2:p.Pro327LeufsTer32
ENST00000414786.7:n.1563_1564insTGGCGGGAGCGGG
ENST00000445220.7:c.31_32insTGGCGGGAGCGGG	ENSP00000489407.2:p.Pro11LeufsTer32
ENST00000673971.2:c.1336_1337insTGGCGGGAGCGGG	ENSP00000501192.1:p.Pro446LeufsTer32
ENST00000445220.6:c.31_32insTGGCGGGAGCGGG	ENSP00000489407.2:p.Pro11LeufsTer32
ENST00000262795.6:c.979_980insTGGCGGGAGCGGG	ENSP00000489147.2:p.Pro327LeufsTer32
ENST00000673971.1:c.1336_1337insTGGCGGGAGCGGG	ENSP00000501192.1:p.Pro446LeufsTer32
ENST00000673995.1:c.32_33insTGGCGGGAGCGGG
ENST00000262795.5:c.1375_1376insTGGCGGGAGCGGG	ENSP00000489147.1:p.Pro459LeufsTer32
ENST00000414786.6:n.1563_1564insTGGCGGGAGCGGG
ENST00000445220.5:c.1357_1358insTGGCGGGAGCGGG	ENSP00000489407.1:p.Pro453LeufsTer32