Canonical Allele Identifier: CA515254714

Gene: SHANK3

Linked Data

• dbSNP Id: rs1198300395
• gnomAD v2: 22-51135968-CT-C
• gnomAD v3: 22-50697540-CT-C
• gnomAD v4: 22-50697540-CT-C
• MyVariant Identifiers: chr22:g.51135969del (hg19) ; chr22:g.51135969_51135984delinsGTATTCGAATTCGAG (hg19) ; chr22:g.50697541del (hg38) ; chr22:g.50697541_50697556delinsGTATTCGAATTCGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697541del , CM000684.2:g.50697541del	GRCh38
NC_000022.10:g.51135969del , CM000684.1:g.51135969del	GRCh37
NC_000022.9:g.49482835del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-23del	ENSP00000489147.2:n.948-23del
ENST00000414786.7:n.1532-23del
ENST00000673971.2:c.1305-23del	ENSP00000501192.1:n.1305-23del
ENST00000262795.6:c.948-23del	ENSP00000489147.2:n.948-23del
ENST00000673971.1:c.1305-23del	ENSP00000501192.1:n.1305-23del
ENST00000262795.5:c.1345-24del	ENSP00000489147.1:n.1345-24del
ENST00000414786.6:n.1532-23del
ENST00000445220.5:c.1326-23del	ENSP00000489407.1:n.1326-23del