Canonical Allele Identifier: CA2411004643
Gene: SHANK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50714826G= , CM000684.2:g.50714826G= GRCh38
NC_000022.10:g.51153254G= , CM000684.1:g.51153254G= GRCh37
NC_000022.9:g.49500120G= NCBI36
NG_008607.2:g.45472G=
NG_070230.1:g.50692G=

Transcript Alleles

HGVS Amino-acid change
ENST00000262795.7:c.1736-91G= ENSP00000489147.2:n.1736-91G=
ENST00000414786.7:n.2320-91G=
ENST00000445220.7:c.788-91G= ENSP00000489407.2:n.788-91G=
ENST00000664402.2:c.278-91G= ENSP00000499475.1:n.278-91G=
ENST00000673971.2:c.*734-91G= ENSP00000501192.1:n.*734-91G=
ENST00000445220.6:c.788-91G= ENSP00000489407.2:n.788-91G=
ENST00000262795.6:c.1736-91G= ENSP00000489147.2:n.1736-91G=
ENST00000664402.1:c.278-91G= ENSP00000499475.1:n.278-91G=
ENST00000673971.1:c.*734-91G= ENSP00000501192.1:n.*734-91G=
ENST00000262795.5:c.2132-91G= ENSP00000489147.1:n.2132-91G=
ENST00000414786.6:n.2320-91G=
ENST00000445220.5:c.2114-91G= ENSP00000489407.1:n.2114-91G=