Canonical Allele Identifier: CA2657599001

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697669-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697670del , CM000684.2:g.50697670del	GRCh38
NC_000022.10:g.51136098del , CM000684.1:g.51136098del	GRCh37
NC_000022.9:g.49482964del	NCBI36
NG_008607.2:g.28316del
NG_070230.1:g.33535del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1054del	ENSP00000489147.2:p.Gln352ArgfsTer14
ENST00000414786.7:n.1638del
ENST00000445220.7:c.106del	ENSP00000489407.2:p.Gln36ArgfsTer14
ENST00000673971.2:c.1411del	ENSP00000501192.1:p.Gln471ArgfsTer14
ENST00000445220.6:c.106del	ENSP00000489407.2:p.Gln36ArgfsTer14
ENST00000262795.6:c.1054del	ENSP00000489147.2:p.Gln352ArgfsTer14
ENST00000673971.1:c.1411del	ENSP00000501192.1:p.Gln471ArgfsTer14
ENST00000673995.1:c.107del
ENST00000262795.5:c.1450del	ENSP00000489147.1:p.Gln484ArgfsTer14
ENST00000414786.6:n.1638del
ENST00000445220.5:c.1432del	ENSP00000489407.1:p.Gln478ArgfsTer14