Canonical Allele Identifier: CA2657583371

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720634-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720637del , CM000684.2:g.50720637del	GRCh38
NC_000022.10:g.51159065del , CM000684.1:g.51159065del	GRCh37
NC_000022.9:g.49505931del	NCBI36
NG_008607.2:g.51283del
NG_070230.1:g.56421del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2405del	ENSP00000489147.2:p.Gly802AlafsTer21
ENST00000414786.7:n.2989del
ENST00000445220.7:c.1457del	ENSP00000489407.2:p.Gly486AlafsTer21
ENST00000664402.2:c.947del	ENSP00000499475.1:p.Gly316AlafsTer21
ENST00000673971.2:c.*1403del	ENSP00000501192.1:n.*1403del
ENST00000445220.6:c.1457del	ENSP00000489407.2:p.Gly486AlafsTer21
ENST00000262795.6:c.2405del	ENSP00000489147.2:p.Gly802AlafsTer21
ENST00000664402.1:c.947del	ENSP00000499475.1:p.Gly316AlafsTer21
ENST00000673971.1:c.*1403del	ENSP00000501192.1:n.*1403del
ENST00000262795.5:c.2801del	ENSP00000489147.1:p.Gly934AlafsTer21
ENST00000414786.6:n.2989del
ENST00000445220.5:c.2783del	ENSP00000489407.1:p.Gly928AlafsTer21