Canonical Allele Identifier: CA1026687245

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083089597
• gnomAD v3: 22-50697544-ATTC-A
• gnomAD v4: 22-50697544-ATTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697545_50697547del , CM000684.2:g.50697545_50697547del	GRCh38
NC_000022.10:g.51135973_51135975del , CM000684.1:g.51135973_51135975del	GRCh37
NC_000022.9:g.49482839_49482841del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-19_948-17del	ENSP00000489147.2:n.948-19_948-17del
ENST00000414786.7:n.1532-19_1532-17del
ENST00000673971.2:c.1305-19_1305-17del	ENSP00000501192.1:n.1305-19_1305-17del
ENST00000262795.6:c.948-19_948-17del	ENSP00000489147.2:n.948-19_948-17del
ENST00000673971.1:c.1305-19_1305-17del	ENSP00000501192.1:n.1305-19_1305-17del
ENST00000262795.5:c.1345-20_1345-18del	ENSP00000489147.1:n.1345-20_1345-18del
ENST00000414786.6:n.1532-19_1532-17del
ENST00000445220.5:c.1326-19_1326-17del	ENSP00000489407.1:n.1326-19_1326-17del