Canonical Allele Identifier: CA2565485691

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720954_50720955insA , CM000684.2:g.50720954_50720955insA	GRCh38
NC_000022.10:g.51159382_51159383insA , CM000684.1:g.51159382_51159383insA	GRCh37
NC_000022.9:g.49506248_49506249insA	NCBI36
NG_008607.2:g.51600_51601insA
NG_070230.1:g.56738_56739insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2722_2723insA	ENSP00000489147.2:p.Gly908GlufsTer?
ENST00000414786.7:n.3306_3307insA
ENST00000445220.7:c.1774_1775insA	ENSP00000489407.2:p.Gly592GlufsTer?
ENST00000664402.2:c.1264_1265insA	ENSP00000499475.1:p.Gly422GlufsTer?
ENST00000673971.2:c.*1720_*1721insA	ENSP00000501192.1:n.*1720_*1721insA
ENST00000445220.6:c.1774_1775insA	ENSP00000489407.2:p.Gly592GlufsTer?
ENST00000262795.6:c.2722_2723insA	ENSP00000489147.2:p.Gly908GlufsTer?
ENST00000664402.1:c.1264_1265insA	ENSP00000499475.1:p.Gly422GlufsTer?
ENST00000673971.1:c.*1720_*1721insA	ENSP00000501192.1:n.*1720_*1721insA
ENST00000262795.5:c.3118_3119insA	ENSP00000489147.1:p.Gly1040GlufsTer?
ENST00000414786.6:n.3306_3307insA
ENST00000445220.5:c.3100_3101insA	ENSP00000489407.1:p.Gly1034GlufsTer?