Canonical Allele Identifier: CA1026686567

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083087204
• gnomAD v3: 22-50697418-GGGGAGGGCGGGA-G
• gnomAD v4: 22-50697418-GGGGAGGGCGGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697428_50697439del , CM000684.2:g.50697428_50697439del	GRCh38
NC_000022.10:g.51135856_51135867del , CM000684.1:g.51135856_51135867del	GRCh37
NC_000022.9:g.49482722_49482733del	NCBI36
NG_008607.2:g.27787_27798del
NG_070230.1:g.33006_33017del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-136_948-125del	ENSP00000489147.2:n.948-136_948-125del
ENST00000414786.7:n.1532-136_1532-125del
ENST00000673971.2:c.1305-136_1305-125del	ENSP00000501192.1:n.1305-136_1305-125del
ENST00000262795.6:c.948-136_948-125del	ENSP00000489147.2:n.948-136_948-125del
ENST00000673971.1:c.1305-136_1305-125del	ENSP00000501192.1:n.1305-136_1305-125del
ENST00000262795.5:c.1345-137_1345-126del	ENSP00000489147.1:n.1345-137_1345-126del
ENST00000414786.6:n.1532-136_1532-125del
ENST00000445220.5:c.1326-136_1326-125del	ENSP00000489407.1:n.1326-136_1326-125del