Canonical Allele Identifier: CA640358935

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083088300
• gnomAD v2: 22-51135936-G-GCTGCCCCC
• gnomAD v3: 22-50697508-G-GCTGCCCCC
• gnomAD v4: 22-50697508-G-GCTGCCCCC
• MyVariant Identifiers: chr22:g.51135936_51135937insCTGCCCCC (hg19) ; chr22:g.50697508_50697509insCTGCCCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697509_50697510insTGCCCCCC , CM000684.2:g.50697509_50697510insTGCCCCCC	GRCh38
NC_000022.10:g.51135937_51135938insTGCCCCCC , CM000684.1:g.51135937_51135938insTGCCCCCC	GRCh37
NC_000022.9:g.49482803_49482804insTGCCCCCC	NCBI36
NG_008607.2:g.27868_27869insTGCCCCCC
NG_070230.1:g.33087_33088insTGCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-55_948-54insTGCCCCCC	ENSP00000489147.2:n.948-55_948-54insTGCCCCCC
ENST00000414786.7:n.1532-55_1532-54insTGCCCCCC
ENST00000673971.2:c.1305-55_1305-54insTGCCCCCC	ENSP00000501192.1:n.1305-55_1305-54insTGCCCCCC
ENST00000262795.6:c.948-55_948-54insTGCCCCCC	ENSP00000489147.2:n.948-55_948-54insTGCCCCCC
ENST00000673971.1:c.1305-55_1305-54insTGCCCCCC	ENSP00000501192.1:n.1305-55_1305-54insTGCCCCCC
ENST00000262795.5:c.1345-56_1345-55insTGCCCCCC	ENSP00000489147.1:n.1345-56_1345-55insTGCCCCCC
ENST00000414786.6:n.1532-55_1532-54insTGCCCCCC
ENST00000445220.5:c.1326-55_1326-54insTGCCCCCC	ENSP00000489407.1:n.1326-55_1326-54insTGCCCCCC