Canonical Allele Identifier: CA3244249716
Community Standard Title: NC_000022.11:g.50722398T=
Gene: SHANK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50722398T= , CM000684.2:g.50722398T= GRCh38
NC_000022.10:g.51160826T= , CM000684.1:g.51160826T= GRCh37
NC_000022.9:g.49507692T= NCBI36
NG_008607.2:g.53044T=
NG_070230.1:g.58182T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.5:c.4562T= ENSP00000489147.1:p.Leu1521=
ENST00000262795.6:c.4166T= ENSP00000489147.2:p.Leu1389=
ENST00000262795.7:c.4166T= ENSP00000489147.2:p.Leu1389=
ENST00000414786.6:n.4750T=
ENST00000414786.7:n.4750T=
ENST00000445220.5:c.4544T= ENSP00000489407.1:p.Leu1515=
ENST00000445220.6:c.3218T= ENSP00000489407.2:p.Leu1073=
ENST00000445220.7:c.3218T= ENSP00000489407.2:p.Leu1073=
ENST00000664402.1:c.2708T= ENSP00000499475.1:p.Leu903=
ENST00000664402.2:c.2708T= ENSP00000499475.1:p.Leu903=
ENST00000673971.1:c.*3164T= ENSP00000501192.1:n.*3164T=
ENST00000673971.2:c.*3164T= ENSP00000501192.1:n.*3164T=