Canonical Allele Identifier: CA2657599921

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697861-GGTGAAGGGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697862_50697871del , CM000684.2:g.50697862_50697871del	GRCh38
NC_000022.10:g.51136290_51136299del , CM000684.1:g.51136290_51136299del	GRCh37
NC_000022.9:g.49483156_49483165del	NCBI36
NG_008607.2:g.28508_28517del
NG_070230.1:g.33726_33735del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1099+147_1099+156del	ENSP00000489147.2:n.1099+147_1099+156del
ENST00000414786.7:n.1683+147_1683+156del
ENST00000445220.7:c.151+147_151+156del	ENSP00000489407.2:n.151+147_151+156del
ENST00000673971.2:c.1456+147_1456+156del	ENSP00000501192.1:n.1456+147_1456+156del
ENST00000445220.6:c.151+147_151+156del	ENSP00000489407.2:n.151+147_151+156del
ENST00000262795.6:c.1099+147_1099+156del	ENSP00000489147.2:n.1099+147_1099+156del
ENST00000673971.1:c.1456+147_1456+156del	ENSP00000501192.1:n.1456+147_1456+156del
ENST00000673995.1:c.152+147_152+156del
ENST00000262795.5:c.1495+147_1495+156del	ENSP00000489147.1:n.1495+147_1495+156del
ENST00000414786.6:n.1683+147_1683+156del
ENST00000445220.5:c.1477+147_1477+156del	ENSP00000489407.1:n.1477+147_1477+156del