Canonical Allele Identifier: CA2657598425
Gene: SHANK3 HGNC NCBI

Linked Data

gnomAD v4: 22-50697563-T-TCGTGCGGCCCCGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697564_50697565insGTGCGGCCCCGGC , CM000684.2:g.50697564_50697565insGTGCGGCCCCGGC GRCh38
NC_000022.10:g.51135992_51135993insGTGCGGCCCCGGC , CM000684.1:g.51135992_51135993insGTGCGGCCCCGGC GRCh37
NC_000022.9:g.49482858_49482859insGTGCGGCCCCGGC NCBI36
NG_008607.2:g.28210_28211insGTGCGGCCCCGGC
NG_070230.1:g.33429_33430insGTGCGGCCCCGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.948_949insGTGCGGCCCCGGC ENSP00000489147.2:p.Pro317ValfsTer?
ENST00000414786.7:n.1532_1533insGTGCGGCCCCGGC
ENST00000673971.2:c.1305_1306insGTGCGGCCCCGGC ENSP00000501192.1:p.Pro436ValfsTer?
ENST00000262795.6:c.948_949insGTGCGGCCCCGGC ENSP00000489147.2:p.Pro317ValfsTer?
ENST00000673971.1:c.1305_1306insGTGCGGCCCCGGC ENSP00000501192.1:p.Pro436ValfsTer?
ENST00000673995.1:c.1_2insGTGCGGCCCCGGC
ENST00000262795.5:c.1345-1_1345insGTGCGGCCCCGGC ENSP00000489147.1:n.1345-1_1345insGTGCGGCCCCGGC
ENST00000414786.6:n.1532_1533insGTGCGGCCCCGGC
ENST00000445220.5:c.1326_1327insGTGCGGCCCCGGC ENSP00000489407.1:p.Pro443ValfsTer?
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