Canonical Allele Identifier: CA2517862977

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720951_50720952insT , CM000684.2:g.50720951_50720952insT	GRCh38
NC_000022.10:g.51159379_51159380insT , CM000684.1:g.51159379_51159380insT	GRCh37
NC_000022.9:g.49506245_49506246insT	NCBI36
NG_008607.2:g.51597_51598insT
NG_070230.1:g.56735_56736insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2719_2720insT	ENSP00000489147.2:p.Pro907LeufsTer?
ENST00000414786.7:n.3303_3304insT
ENST00000445220.7:c.1771_1772insT	ENSP00000489407.2:p.Pro591LeufsTer?
ENST00000664402.2:c.1261_1262insT	ENSP00000499475.1:p.Pro421LeufsTer?
ENST00000673971.2:c.*1717_*1718insT	ENSP00000501192.1:n.*1717_*1718insT
ENST00000445220.6:c.1771_1772insT	ENSP00000489407.2:p.Pro591LeufsTer?
ENST00000262795.6:c.2719_2720insT	ENSP00000489147.2:p.Pro907LeufsTer?
ENST00000664402.1:c.1261_1262insT	ENSP00000499475.1:p.Pro421LeufsTer?
ENST00000673971.1:c.*1717_*1718insT	ENSP00000501192.1:n.*1717_*1718insT
ENST00000262795.5:c.3115_3116insT	ENSP00000489147.1:p.Pro1039LeufsTer?
ENST00000414786.6:n.3303_3304insT
ENST00000445220.5:c.3097_3098insT	ENSP00000489407.1:p.Pro1033LeufsTer?