Canonical Allele Identifier: CA2410995615
Gene: SHANK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697994T= , CM000684.2:g.50697994T= GRCh38
NC_000022.10:g.51136422T= , CM000684.1:g.51136422T= GRCh37
NC_000022.9:g.49483288T= NCBI36
NG_008607.2:g.28640T=
NG_070230.1:g.33858T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.1099+279T= ENSP00000489147.2:n.1099+279T=
ENST00000414786.7:n.1683+279T=
ENST00000445220.7:c.151+279T= ENSP00000489407.2:n.151+279T=
ENST00000673971.2:c.1456+279T= ENSP00000501192.1:n.1456+279T=
ENST00000445220.6:c.151+279T= ENSP00000489407.2:n.151+279T=
ENST00000262795.6:c.1099+279T= ENSP00000489147.2:n.1099+279T=
ENST00000673971.1:c.1456+279T= ENSP00000501192.1:n.1456+279T=
ENST00000673995.1:c.153-150T=
ENST00000262795.5:c.1495+279T= ENSP00000489147.1:n.1495+279T=
ENST00000414786.6:n.1683+279T=
ENST00000445220.5:c.1477+279T= ENSP00000489407.1:n.1477+279T=