Canonical Allele Identifier: CA640358978
Gene: SHANK3 HGNC NCBI

Linked Data

dbSNP Id: rs1569105443
gnomAD v2: 22-51135968-CTGTATTCGAATTCGAG-C
gnomAD v3: 22-50697540-CTGTATTCGAATTCGAG-C
gnomAD v4: 22-50697540-CTGTATTCGAATTCGAG-C
MyVariant Identifiers: chr22:g.51135969_51135984del (hg19) chr22:g.50697541_50697556del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697541_50697556del , CM000684.2:g.50697541_50697556del GRCh38
NC_000022.10:g.51135969_51135984del , CM000684.1:g.51135969_51135984del GRCh37
NC_000022.9:g.49482835_49482850del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.948-23_948-8del ENSP00000489147.2:n.948-23_948-8del
ENST00000414786.7:n.1532-23_1532-8del
ENST00000673971.2:c.1305-23_1305-8del ENSP00000501192.1:n.1305-23_1305-8del
ENST00000262795.6:c.948-23_948-8del ENSP00000489147.2:n.948-23_948-8del
ENST00000673971.1:c.1305-23_1305-8del ENSP00000501192.1:n.1305-23_1305-8del
ENST00000262795.5:c.1345-24_1345-9del ENSP00000489147.1:n.1345-24_1345-9del
ENST00000414786.6:n.1532-23_1532-8del
ENST00000445220.5:c.1326-23_1326-8del ENSP00000489407.1:n.1326-23_1326-8del
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