Canonical Allele Identifier: CA2657583409

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720788-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720789del , CM000684.2:g.50720789del	GRCh38
NC_000022.10:g.51159217del , CM000684.1:g.51159217del	GRCh37
NC_000022.9:g.49506083del	NCBI36
NG_008607.2:g.51435del
NG_070230.1:g.56573del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2557del	ENSP00000489147.2:p.Ser853ProfsTer?
ENST00000414786.7:n.3141del
ENST00000445220.7:c.1609del	ENSP00000489407.2:p.Ser537ProfsTer?
ENST00000664402.2:c.1099del	ENSP00000499475.1:p.Ser367ProfsTer?
ENST00000673971.2:c.*1555del	ENSP00000501192.1:n.*1555del
ENST00000445220.6:c.1609del	ENSP00000489407.2:p.Ser537ProfsTer?
ENST00000262795.6:c.2557del	ENSP00000489147.2:p.Ser853ProfsTer?
ENST00000664402.1:c.1099del	ENSP00000499475.1:p.Ser367ProfsTer?
ENST00000673971.1:c.*1555del	ENSP00000501192.1:n.*1555del
ENST00000262795.5:c.2953del	ENSP00000489147.1:p.Ser985ProfsTer?
ENST00000414786.6:n.3141del
ENST00000445220.5:c.2935del	ENSP00000489407.1:p.Ser979ProfsTer?