Canonical Allele Identifier: CA2657598161

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697555-A-ACC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697555_50697556insCC , CM000684.2:g.50697555_50697556insCC	GRCh38
NC_000022.10:g.51135983_51135984insCC , CM000684.1:g.51135983_51135984insCC	GRCh37
NC_000022.9:g.49482849_49482850insCC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-9_948-8insCC	ENSP00000489147.2:n.948-9_948-8insCC
ENST00000414786.7:n.1532-9_1532-8insCC
ENST00000673971.2:c.1305-9_1305-8insCC	ENSP00000501192.1:n.1305-9_1305-8insCC
ENST00000262795.6:c.948-9_948-8insCC	ENSP00000489147.2:n.948-9_948-8insCC
ENST00000673971.1:c.1305-9_1305-8insCC	ENSP00000501192.1:n.1305-9_1305-8insCC
ENST00000262795.5:c.1345-10_1345-9insCC	ENSP00000489147.1:n.1345-10_1345-9insCC
ENST00000414786.6:n.1532-9_1532-8insCC
ENST00000445220.5:c.1326-9_1326-8insCC	ENSP00000489407.1:n.1326-9_1326-8insCC