Canonical Allele Identifier: CA1026687875

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083092902
• gnomAD v3: 22-50697760-AG-A
• gnomAD v4: 22-50697760-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697765del , CM000684.2:g.50697765del	GRCh38
NC_000022.10:g.51136193del , CM000684.1:g.51136193del	GRCh37
NC_000022.9:g.49483059del	NCBI36
NG_008607.2:g.28411del
NG_070230.1:g.33629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1099+50del	ENSP00000489147.2:n.1099+50del
ENST00000414786.7:n.1683+50del
ENST00000445220.7:c.151+50del	ENSP00000489407.2:n.151+50del
ENST00000673971.2:c.1456+50del	ENSP00000501192.1:n.1456+50del
ENST00000445220.6:c.151+50del	ENSP00000489407.2:n.151+50del
ENST00000262795.6:c.1099+50del	ENSP00000489147.2:n.1099+50del
ENST00000673971.1:c.1456+50del	ENSP00000501192.1:n.1456+50del
ENST00000673995.1:c.152+50del
ENST00000262795.5:c.1495+50del	ENSP00000489147.1:n.1495+50del
ENST00000414786.6:n.1683+50del
ENST00000445220.5:c.1477+50del	ENSP00000489407.1:n.1477+50del