Canonical Allele Identifier: CA2410995270
Gene: SHANK3 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697510G= , CM000684.2:g.50697510G= GRCh38
NC_000022.10:g.51135938G= , CM000684.1:g.51135938G= GRCh37
NC_000022.9:g.49482804G= NCBI36
NG_008607.2:g.27869G=
NG_070230.1:g.33088G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.948-54G= ENSP00000489147.2:n.948-54G=
ENST00000414786.7:n.1532-54G=
ENST00000673971.2:c.1305-54G= ENSP00000501192.1:n.1305-54G=
ENST00000262795.6:c.948-54G= ENSP00000489147.2:n.948-54G=
ENST00000673971.1:c.1305-54G= ENSP00000501192.1:n.1305-54G=
ENST00000262795.5:c.1345-55G= ENSP00000489147.1:n.1345-55G=
ENST00000414786.6:n.1532-54G=
ENST00000445220.5:c.1326-54G= ENSP00000489407.1:n.1326-54G=
Search 100 bp 5'
Search 100 bp 3'