Canonical Allele Identifier: CA754138152

Gene: SHANK3

Linked Data

• dbSNP Id: rs1491153109
• gnomAD v3: 22-50697509-CGG-C
• gnomAD v4: 22-50697509-CGG-C
• MyVariant Identifiers: chr22:g.51135938_51135939del (hg19) ; chr22:g.50697510_50697511del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697510_50697511del , CM000684.2:g.50697510_50697511del	GRCh38
NC_000022.10:g.51135938_51135939del , CM000684.1:g.51135938_51135939del	GRCh37
NC_000022.9:g.49482804_49482805del	NCBI36
NG_008607.2:g.27869_27870del
NG_070230.1:g.33088_33089del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-54_948-53del	ENSP00000489147.2:n.948-54_948-53del
ENST00000414786.7:n.1532-54_1532-53del
ENST00000673971.2:c.1305-54_1305-53del	ENSP00000501192.1:n.1305-54_1305-53del
ENST00000262795.6:c.948-54_948-53del	ENSP00000489147.2:n.948-54_948-53del
ENST00000673971.1:c.1305-54_1305-53del	ENSP00000501192.1:n.1305-54_1305-53del
ENST00000262795.5:c.1345-55_1345-54del	ENSP00000489147.1:n.1345-55_1345-54del
ENST00000414786.6:n.1532-54_1532-53del
ENST00000445220.5:c.1326-54_1326-53del	ENSP00000489407.1:n.1326-54_1326-53del