Canonical Allele Identifier: CA2819325446
Gene: SHANK3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697594_50697695del , CM000684.2:g.50697594_50697695del GRCh38
NC_000022.10:g.51136022_51136123del , CM000684.1:g.51136022_51136123del GRCh37
NC_000022.9:g.49482888_49482989del NCBI36
NG_008607.2:g.28240_28341del
NG_070230.1:g.33459_33560del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.978_1079del ENSP00000489147.2:p.Pro327_His360del
ENST00000414786.7:n.1562_1663del
ENST00000445220.7:c.30_131del ENSP00000489407.2:p.Pro11_His44del
ENST00000673971.2:c.1335_1436del ENSP00000501192.1:p.Pro446_His479del
ENST00000445220.6:c.30_131del ENSP00000489407.2:p.Pro11_His44del
ENST00000262795.6:c.978_1079del ENSP00000489147.2:p.Pro327_His360del
ENST00000673971.1:c.1335_1436del ENSP00000501192.1:p.Pro446_His479del
ENST00000673995.1:c.31_132del
ENST00000262795.5:c.1374_1475del ENSP00000489147.1:p.Pro459_His492del
ENST00000414786.6:n.1562_1663del
ENST00000445220.5:c.1356_1457del ENSP00000489407.1:p.Pro453_His486del
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