Canonical Allele Identifier: CA2657599642

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697784-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697784T>A , CM000684.2:g.50697784T>A	GRCh38
NC_000022.10:g.51136212T>A , CM000684.1:g.51136212T>A	GRCh37
NC_000022.9:g.49483078T>A	NCBI36
NG_008607.2:g.28430T>A
NG_070230.1:g.33648T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1099+69T>A	ENSP00000489147.2:n.1099+69T>A
ENST00000414786.7:n.1683+69T>A
ENST00000445220.7:c.151+69T>A	ENSP00000489407.2:n.151+69T>A
ENST00000673971.2:c.1456+69T>A	ENSP00000501192.1:n.1456+69T>A
ENST00000445220.6:c.151+69T>A	ENSP00000489407.2:n.151+69T>A
ENST00000262795.6:c.1099+69T>A	ENSP00000489147.2:n.1099+69T>A
ENST00000673971.1:c.1456+69T>A	ENSP00000501192.1:n.1456+69T>A
ENST00000673995.1:c.152+69T>A
ENST00000262795.5:c.1495+69T>A	ENSP00000489147.1:n.1495+69T>A
ENST00000414786.6:n.1683+69T>A
ENST00000445220.5:c.1477+69T>A	ENSP00000489407.1:n.1477+69T>A