Canonical Allele Identifier: CA2411004651
Gene: SHANK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50714842G= , CM000684.2:g.50714842G= GRCh38
NC_000022.10:g.51153270G= , CM000684.1:g.51153270G= GRCh37
NC_000022.9:g.49500136G= NCBI36
NG_008607.2:g.45488G=
NG_070230.1:g.50708G=

Transcript Alleles

HGVS Amino-acid change
ENST00000262795.7:c.1736-75G= ENSP00000489147.2:n.1736-75G=
ENST00000414786.7:n.2320-75G=
ENST00000445220.7:c.788-75G= ENSP00000489407.2:n.788-75G=
ENST00000664402.2:c.278-75G= ENSP00000499475.1:n.278-75G=
ENST00000673971.2:c.*734-75G= ENSP00000501192.1:n.*734-75G=
ENST00000445220.6:c.788-75G= ENSP00000489407.2:n.788-75G=
ENST00000262795.6:c.1736-75G= ENSP00000489147.2:n.1736-75G=
ENST00000664402.1:c.278-75G= ENSP00000499475.1:n.278-75G=
ENST00000673971.1:c.*734-75G= ENSP00000501192.1:n.*734-75G=
ENST00000262795.5:c.2132-75G= ENSP00000489147.1:n.2132-75G=
ENST00000414786.6:n.2320-75G=
ENST00000445220.5:c.2114-75G= ENSP00000489407.1:n.2114-75G=