Canonical Allele Identifier: CA2657583378

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720666-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720668del , CM000684.2:g.50720668del	GRCh38
NC_000022.10:g.51159096del , CM000684.1:g.51159096del	GRCh37
NC_000022.9:g.49505962del	NCBI36
NG_008607.2:g.51314del
NG_070230.1:g.56452del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2436del	ENSP00000489147.2:p.Lys813SerfsTer10
ENST00000414786.7:n.3020del
ENST00000445220.7:c.1488del	ENSP00000489407.2:p.Lys497SerfsTer10
ENST00000664402.2:c.978del	ENSP00000499475.1:p.Lys327SerfsTer10
ENST00000673971.2:c.*1434del	ENSP00000501192.1:n.*1434del
ENST00000445220.6:c.1488del	ENSP00000489407.2:p.Lys497SerfsTer10
ENST00000262795.6:c.2436del	ENSP00000489147.2:p.Lys813SerfsTer10
ENST00000664402.1:c.978del	ENSP00000499475.1:p.Lys327SerfsTer10
ENST00000673971.1:c.*1434del	ENSP00000501192.1:n.*1434del
ENST00000262795.5:c.2832del	ENSP00000489147.1:p.Lys945SerfsTer10
ENST00000414786.6:n.3020del
ENST00000445220.5:c.2814del	ENSP00000489407.1:p.Lys939SerfsTer10