Canonical Allele Identifier: CA2411008218

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721403_50721406delinsCAAG , CM000684.2:g.50721403_50721406delinsCAAG	GRCh38
NC_000022.10:g.51159831_51159834delinsCAAG , CM000684.1:g.51159831_51159834delinsCAAG	GRCh37
NC_000022.9:g.49506697_49506700delinsCAAG	NCBI36
NG_008607.2:g.52049_52052delinsCAAG
NG_070230.1:g.57187_57190delinsCAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3171_3174delinsCAAG	ENSP00000489147.2:p.Asp1057=
ENST00000414786.7:n.3755_3758delinsCAAG
ENST00000445220.7:c.2223_2226delinsCAAG	ENSP00000489407.2:p.Asp741=
ENST00000664402.2:c.1713_1716delinsCAAG	ENSP00000499475.1:p.Asp571=
ENST00000673971.2:c.*2169_*2172delinsCAAG	ENSP00000501192.1:n.*2169_*2172delinsCAAG
ENST00000445220.6:c.2223_2226delinsCAAG	ENSP00000489407.2:p.Asp741=
ENST00000262795.6:c.3171_3174delinsCAAG	ENSP00000489147.2:p.Asp1057=
ENST00000664402.1:c.1713_1716delinsCAAG	ENSP00000499475.1:p.Asp571=
ENST00000673971.1:c.*2169_*2172delinsCAAG	ENSP00000501192.1:n.*2169_*2172delinsCAAG
ENST00000262795.5:c.3567_3570delinsCAAG	ENSP00000489147.1:p.Asp1189=
ENST00000414786.6:n.3755_3758delinsCAAG
ENST00000445220.5:c.3549_3552delinsCAAG	ENSP00000489407.1:p.Asp1183=