Canonical Allele Identifier: CA2410995320

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697547_50697551delinsCGAAT , CM000684.2:g.50697547_50697551delinsCGAAT	GRCh38
NC_000022.10:g.51135975_51135979delinsCGAAT , CM000684.1:g.51135975_51135979delinsCGAAT	GRCh37
NC_000022.9:g.49482841_49482845delinsCGAAT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-17_948-13delinsCGAAT	ENSP00000489147.2:n.948-17_948-13delinsCGAAT
ENST00000414786.7:n.1532-17_1532-13delinsCGAAT
ENST00000673971.2:c.1305-17_1305-13delinsCGAAT	ENSP00000501192.1:n.1305-17_1305-13delinsCGAAT
ENST00000262795.6:c.948-17_948-13delinsCGAAT	ENSP00000489147.2:n.948-17_948-13delinsCGAAT
ENST00000673971.1:c.1305-17_1305-13delinsCGAAT	ENSP00000501192.1:n.1305-17_1305-13delinsCGAAT
ENST00000262795.5:c.1345-18_1345-14delinsCGAAT	ENSP00000489147.1:n.1345-18_1345-14delinsCGAAT
ENST00000414786.6:n.1532-17_1532-13delinsCGAAT
ENST00000445220.5:c.1326-17_1326-13delinsCGAAT	ENSP00000489407.1:n.1326-17_1326-13delinsCGAAT