Canonical Allele Identifier: CA2411008466

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721800_50721801delinsCT , CM000684.2:g.50721800_50721801delinsCT	GRCh38
NC_000022.10:g.51160228_51160229delinsCT , CM000684.1:g.51160228_51160229delinsCT	GRCh37
NC_000022.9:g.49507094_49507095delinsCT	NCBI36
NG_008607.2:g.52446_52447delinsCT
NG_070230.1:g.57584_57585delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3568_3569delinsCT	ENSP00000489147.2:p.Leu1190=
ENST00000414786.7:n.4152_4153delinsCT
ENST00000445220.7:c.2620_2621delinsCT	ENSP00000489407.2:p.Leu874=
ENST00000664402.2:c.2110_2111delinsCT	ENSP00000499475.1:p.Leu704=
ENST00000673971.2:c.*2566_*2567delinsCT	ENSP00000501192.1:n.*2566_*2567delinsCT
ENST00000445220.6:c.2620_2621delinsCT	ENSP00000489407.2:p.Leu874=
ENST00000262795.6:c.3568_3569delinsCT	ENSP00000489147.2:p.Leu1190=
ENST00000664402.1:c.2110_2111delinsCT	ENSP00000499475.1:p.Leu704=
ENST00000673971.1:c.*2566_*2567delinsCT	ENSP00000501192.1:n.*2566_*2567delinsCT
ENST00000262795.5:c.3964_3965delinsCT	ENSP00000489147.1:p.Leu1322=
ENST00000414786.6:n.4152_4153delinsCT
ENST00000445220.5:c.3946_3947delinsCT	ENSP00000489407.1:p.Leu1316=