Canonical Allele Identifier: CA1026686679
Gene: SHANK3 HGNC NCBI

Linked Data

gnomAD v3: 22-50697492-G-GCC
gnomAD v4: 22-50697492-G-GCC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697492_50697493insCC , CM000684.2:g.50697492_50697493insCC GRCh38
NC_000022.10:g.51135920_51135921insCC , CM000684.1:g.51135920_51135921insCC GRCh37
NC_000022.9:g.49482786_49482787insCC NCBI36
NG_008607.2:g.27851_27852insCC
NG_070230.1:g.33070_33071insCC

Transcript Alleles

HGVS Amino-acid change
ENST00000262795.7:c.948-72_948-71insCC ENSP00000489147.2:n.948-72_948-71insCC
ENST00000414786.7:n.1532-72_1532-71insCC
ENST00000673971.2:c.1305-72_1305-71insCC ENSP00000501192.1:n.1305-72_1305-71insCC
ENST00000262795.6:c.948-72_948-71insCC ENSP00000489147.2:n.948-72_948-71insCC
ENST00000673971.1:c.1305-72_1305-71insCC ENSP00000501192.1:n.1305-72_1305-71insCC
ENST00000262795.5:c.1345-73_1345-72insCC ENSP00000489147.1:n.1345-73_1345-72insCC
ENST00000414786.6:n.1532-72_1532-71insCC
ENST00000445220.5:c.1326-72_1326-71insCC ENSP00000489407.1:n.1326-72_1326-71insCC
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