Canonical Allele Identifier: CA2411008310
Gene: SHANK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50721536C= , CM000684.2:g.50721536C= GRCh38
NC_000022.10:g.51159964C= , CM000684.1:g.51159964C= GRCh37
NC_000022.9:g.49506830C= NCBI36
NG_008607.2:g.52182C=
NG_070230.1:g.57320C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.3304C= ENSP00000489147.2:p.Pro1102=
ENST00000414786.7:n.3888C=
ENST00000445220.7:c.2356C= ENSP00000489407.2:p.Pro786=
ENST00000664402.2:c.1846C= ENSP00000499475.1:p.Pro616=
ENST00000673971.2:c.*2302C= ENSP00000501192.1:n.*2302C=
ENST00000445220.6:c.2356C= ENSP00000489407.2:p.Pro786=
ENST00000262795.6:c.3304C= ENSP00000489147.2:p.Pro1102=
ENST00000664402.1:c.1846C= ENSP00000499475.1:p.Pro616=
ENST00000673971.1:c.*2302C= ENSP00000501192.1:n.*2302C=
ENST00000262795.5:c.3700C= ENSP00000489147.1:p.Pro1234=
ENST00000414786.6:n.3888C=
ENST00000445220.5:c.3682C= ENSP00000489407.1:p.Pro1228=