Canonical Allele Identifier: CA1026686979

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083088811
• gnomAD v3: 22-50697528-C-CT
• gnomAD v4: 22-50697528-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697528_50697529insT , CM000684.2:g.50697528_50697529insT	GRCh38
NC_000022.10:g.51135956_51135957insT , CM000684.1:g.51135956_51135957insT	GRCh37
NC_000022.9:g.49482822_49482823insT	NCBI36
NG_008607.2:g.27887_27888insT
NG_070230.1:g.33106_33107insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-36_948-35insT	ENSP00000489147.2:n.948-36_948-35insT
ENST00000414786.7:n.1532-36_1532-35insT
ENST00000673971.2:c.1305-36_1305-35insT	ENSP00000501192.1:n.1305-36_1305-35insT
ENST00000262795.6:c.948-36_948-35insT	ENSP00000489147.2:n.948-36_948-35insT
ENST00000673971.1:c.1305-36_1305-35insT	ENSP00000501192.1:n.1305-36_1305-35insT
ENST00000262795.5:c.1345-37_1345-36insT	ENSP00000489147.1:n.1345-37_1345-36insT
ENST00000414786.6:n.1532-36_1532-35insT
ENST00000445220.5:c.1326-36_1326-35insT	ENSP00000489407.1:n.1326-36_1326-35insT