Canonical Allele Identifier: CA2657583372

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720637-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720638del , CM000684.2:g.50720638del	GRCh38
NC_000022.10:g.51159066del , CM000684.1:g.51159066del	GRCh37
NC_000022.9:g.49505932del	NCBI36
NG_008607.2:g.51284del
NG_070230.1:g.56422del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2406del	ENSP00000489147.2:p.Ala803ProfsTer20
ENST00000414786.7:n.2990del
ENST00000445220.7:c.1458del	ENSP00000489407.2:p.Ala487ProfsTer20
ENST00000664402.2:c.948del	ENSP00000499475.1:p.Ala317ProfsTer20
ENST00000673971.2:c.*1404del	ENSP00000501192.1:n.*1404del
ENST00000445220.6:c.1458del	ENSP00000489407.2:p.Ala487ProfsTer20
ENST00000262795.6:c.2406del	ENSP00000489147.2:p.Ala803ProfsTer20
ENST00000664402.1:c.948del	ENSP00000499475.1:p.Ala317ProfsTer20
ENST00000673971.1:c.*1404del	ENSP00000501192.1:n.*1404del
ENST00000262795.5:c.2802del	ENSP00000489147.1:p.Ala935ProfsTer20
ENST00000414786.6:n.2990del
ENST00000445220.5:c.2784del	ENSP00000489407.1:p.Ala929ProfsTer20