Canonical Allele Identifier: CA2657597298

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697400-CCCGGGGGTCGGCGGCGAGGGGAGGGCGGGAGGGAGGGCGCGAGGGCCGCCACCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697404_50697457del , CM000684.2:g.50697404_50697457del	GRCh38
NC_000022.10:g.51135832_51135885del , CM000684.1:g.51135832_51135885del	GRCh37
NC_000022.9:g.49482698_49482751del	NCBI36
NG_008607.2:g.27763_27816del
NG_070230.1:g.32982_33035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-160_948-107del	ENSP00000489147.2:n.948-160_948-107del
ENST00000414786.7:n.1532-160_1532-107del
ENST00000673971.2:c.1305-160_1305-107del	ENSP00000501192.1:n.1305-160_1305-107del
ENST00000262795.6:c.948-160_948-107del	ENSP00000489147.2:n.948-160_948-107del
ENST00000673971.1:c.1305-160_1305-107del	ENSP00000501192.1:n.1305-160_1305-107del
ENST00000262795.5:c.1344+137_1345-108del	ENSP00000489147.1:n.1344+137_1345-108del
ENST00000414786.6:n.1532-160_1532-107del
ENST00000445220.5:c.1326-160_1326-107del	ENSP00000489407.1:n.1326-160_1326-107del