Canonical Allele Identifier: CA2410995317

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697544_50697547delinsATTC , CM000684.2:g.50697544_50697547delinsATTC	GRCh38
NC_000022.10:g.51135972_51135975delinsATTC , CM000684.1:g.51135972_51135975delinsATTC	GRCh37
NC_000022.9:g.49482838_49482841delinsATTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-20_948-17delinsATTC	ENSP00000489147.2:n.948-20_948-17delinsATTC
ENST00000414786.7:n.1532-20_1532-17delinsATTC
ENST00000673971.2:c.1305-20_1305-17delinsATTC	ENSP00000501192.1:n.1305-20_1305-17delinsATTC
ENST00000262795.6:c.948-20_948-17delinsATTC	ENSP00000489147.2:n.948-20_948-17delinsATTC
ENST00000673971.1:c.1305-20_1305-17delinsATTC	ENSP00000501192.1:n.1305-20_1305-17delinsATTC
ENST00000262795.5:c.1345-21_1345-18delinsATTC	ENSP00000489147.1:n.1345-21_1345-18delinsATTC
ENST00000414786.6:n.1532-20_1532-17delinsATTC
ENST00000445220.5:c.1326-20_1326-17delinsATTC	ENSP00000489407.1:n.1326-20_1326-17delinsATTC