Canonical Allele Identifier: CA640358943

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083088521
• gnomAD v2: 22-51135942-T-TC
• gnomAD v3: 22-50697514-T-TC
• gnomAD v4: 22-50697514-T-TC
• MyVariant Identifiers: chr22:g.51135942_51135943insC (hg19) ; chr22:g.50697514_50697515insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697514_50697515insC , CM000684.2:g.50697514_50697515insC	GRCh38
NC_000022.10:g.51135942_51135943insC , CM000684.1:g.51135942_51135943insC	GRCh37
NC_000022.9:g.49482808_49482809insC	NCBI36
NG_008607.2:g.27873_27874insC
NG_070230.1:g.33092_33093insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-50_948-49insC	ENSP00000489147.2:n.948-50_948-49insC
ENST00000414786.7:n.1532-50_1532-49insC
ENST00000673971.2:c.1305-50_1305-49insC	ENSP00000501192.1:n.1305-50_1305-49insC
ENST00000262795.6:c.948-50_948-49insC	ENSP00000489147.2:n.948-50_948-49insC
ENST00000673971.1:c.1305-50_1305-49insC	ENSP00000501192.1:n.1305-50_1305-49insC
ENST00000262795.5:c.1345-51_1345-50insC	ENSP00000489147.1:n.1345-51_1345-50insC
ENST00000414786.6:n.1532-50_1532-49insC
ENST00000445220.5:c.1326-50_1326-49insC	ENSP00000489407.1:n.1326-50_1326-49insC