Canonical Allele Identifier: CA2657583366

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720613-CCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720614_50720615del , CM000684.2:g.50720614_50720615del	GRCh38
NC_000022.10:g.51159042_51159043del , CM000684.1:g.51159042_51159043del	GRCh37
NC_000022.9:g.49505908_49505909del	NCBI36
NG_008607.2:g.51260_51261del
NG_070230.1:g.56398_56399del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2382_2383del	ENSP00000489147.2:p.Asp795GlnfsTer?
ENST00000414786.7:n.2966_2967del
ENST00000445220.7:c.1434_1435del	ENSP00000489407.2:p.Asp479GlnfsTer?
ENST00000664402.2:c.924_925del	ENSP00000499475.1:p.Asp309GlnfsTer?
ENST00000673971.2:c.*1380_*1381del	ENSP00000501192.1:n.*1380_*1381del
ENST00000445220.6:c.1434_1435del	ENSP00000489407.2:p.Asp479GlnfsTer?
ENST00000262795.6:c.2382_2383del	ENSP00000489147.2:p.Asp795GlnfsTer?
ENST00000664402.1:c.924_925del	ENSP00000499475.1:p.Asp309GlnfsTer?
ENST00000673971.1:c.*1380_*1381del	ENSP00000501192.1:n.*1380_*1381del
ENST00000262795.5:c.2778_2779del	ENSP00000489147.1:p.Asp927GlnfsTer?
ENST00000414786.6:n.2966_2967del
ENST00000445220.5:c.2760_2761del	ENSP00000489407.1:p.Asp921GlnfsTer?