Canonical Allele Identifier: CA14963179
Gene: SHANK3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50712045G>A , CM000684.2:g.50712045G>A GRCh38
NC_000022.10:g.51150473G>A , CM000684.1:g.51150473G>A GRCh37
NC_000022.9:g.49497339G>A NCBI36
NG_008607.2:g.42691G>A
NG_070230.1:g.47911G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.1735+407G>A ENSP00000489147.2:n.1735+407G>A
ENST00000414786.7:n.2319+407G>A
ENST00000445220.7:c.787+407G>A ENSP00000489407.2:n.787+407G>A
ENST00000664402.2:c.277+407G>A ENSP00000499475.1:n.277+407G>A
ENST00000673971.2:c.*733+407G>A ENSP00000501192.1:n.*733+407G>A
ENST00000445220.6:c.787+407G>A ENSP00000489407.2:n.787+407G>A
ENST00000262795.6:c.1735+407G>A ENSP00000489147.2:n.1735+407G>A
ENST00000664402.1:c.277+407G>A ENSP00000499475.1:n.277+407G>A
ENST00000673971.1:c.*733+407G>A ENSP00000501192.1:n.*733+407G>A
ENST00000262795.5:c.2131+407G>A ENSP00000489147.1:n.2131+407G>A
ENST00000414786.6:n.2319+407G>A
ENST00000445220.5:c.2113+407G>A ENSP00000489407.1:n.2113+407G>A
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