Canonical Allele Identifier: CA1026686959

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697526-GGCGCGCCCAGGAGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCT-G
• gnomAD v4: 22-50697526-GGCGCGCCCAGGAGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697531_50697580del , CM000684.2:g.50697531_50697580del	GRCh38
NC_000022.10:g.51135959_51136008del , CM000684.1:g.51135959_51136008del	GRCh37
NC_000022.9:g.49482825_49482874del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-33_964del
ENST00000414786.7:n.1532-33_1548del
ENST00000673971.2:c.1305-33_1321del
ENST00000262795.6:c.948-33_964del
ENST00000673971.1:c.1305-33_1321del
ENST00000262795.5:c.1345-34_1360del
ENST00000414786.6:n.1532-33_1548del
ENST00000445220.5:c.1326-33_1342del