Canonical Allele Identifier: CA16621138
Gene: SHANK3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50715731del , CM000684.2:g.50715731del GRCh38
NC_000022.10:g.51154159del , CM000684.1:g.51154159del GRCh37
NC_000022.9:g.49501025del NCBI36
NG_008607.2:g.46377del
NG_070230.1:g.51597del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.1929del ENSP00000489147.2:p.Ile644PhefsTer7
ENST00000414786.7:n.2513del
ENST00000445220.7:c.981del ENSP00000489407.2:p.Ile328PhefsTer7
ENST00000664402.2:c.471del ENSP00000499475.1:p.Ile158PhefsTer7
ENST00000673971.2:c.*927del ENSP00000501192.1:n.*927del
ENST00000445220.6:c.981del ENSP00000489407.2:p.Ile328PhefsTer7
ENST00000262795.6:c.1929del ENSP00000489147.2:p.Ile644PhefsTer7
ENST00000664402.1:c.471del ENSP00000499475.1:p.Ile158PhefsTer7
ENST00000673971.1:c.*927del ENSP00000501192.1:n.*927del
ENST00000262795.5:c.2325del ENSP00000489147.1:p.Ile776PhefsTer7
ENST00000414786.6:n.2513del
ENST00000445220.5:c.2307del ENSP00000489407.1:p.Ile770PhefsTer7
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