Canonical Allele Identifier: CA2411007714

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083276027
• gnomAD v4: 22-50720605-GCCCGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720610_50720615del , CM000684.2:g.50720610_50720615del	GRCh38
NC_000022.10:g.51159038_51159043del , CM000684.1:g.51159038_51159043del	GRCh37
NC_000022.9:g.49505904_49505909del	NCBI36
NG_008607.2:g.51256_51261del
NG_070230.1:g.56394_56399del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2378_2383del	ENSP00000489147.2:p.Gly793_Pro794del
ENST00000414786.7:n.2962_2967del
ENST00000445220.7:c.1430_1435del	ENSP00000489407.2:p.Gly477_Pro478del
ENST00000664402.2:c.920_925del	ENSP00000499475.1:p.Gly307_Pro308del
ENST00000673971.2:c.*1376_*1381del	ENSP00000501192.1:n.*1376_*1381del
ENST00000445220.6:c.1430_1435del	ENSP00000489407.2:p.Gly477_Pro478del
ENST00000262795.6:c.2378_2383del	ENSP00000489147.2:p.Gly793_Pro794del
ENST00000664402.1:c.920_925del	ENSP00000499475.1:p.Gly307_Pro308del
ENST00000673971.1:c.*1376_*1381del	ENSP00000501192.1:n.*1376_*1381del
ENST00000262795.5:c.2774_2779del	ENSP00000489147.1:p.Gly925_Pro926del
ENST00000414786.6:n.2962_2967del
ENST00000445220.5:c.2756_2761del	ENSP00000489407.1:p.Gly919_Pro920del