Canonical Allele Identifier: CA2657583154

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720459-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720462del , CM000684.2:g.50720462del	GRCh38
NC_000022.10:g.51158890del , CM000684.1:g.51158890del	GRCh37
NC_000022.9:g.49505756del	NCBI36
NG_008607.2:g.51108del
NG_070230.1:g.56246del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2230del	ENSP00000489147.2:p.Leu744SerfsTer16
ENST00000414786.7:n.2814del
ENST00000445220.7:c.1282del	ENSP00000489407.2:p.Leu428SerfsTer16
ENST00000664402.2:c.772del	ENSP00000499475.1:p.Leu258SerfsTer16
ENST00000673971.2:c.*1228del	ENSP00000501192.1:n.*1228del
ENST00000445220.6:c.1282del	ENSP00000489407.2:p.Leu428SerfsTer16
ENST00000262795.6:c.2230del	ENSP00000489147.2:p.Leu744SerfsTer16
ENST00000664402.1:c.772del	ENSP00000499475.1:p.Leu258SerfsTer16
ENST00000673971.1:c.*1228del	ENSP00000501192.1:n.*1228del
ENST00000262795.5:c.2626del	ENSP00000489147.1:p.Leu876SerfsTer16
ENST00000414786.6:n.2814del
ENST00000445220.5:c.2608del	ENSP00000489407.1:p.Leu870SerfsTer16