Canonical Allele Identifier: CA1026686733

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697500-GGGCGGCCGCGGCATGGAGCGAGCCTGGCGCGCCCAGGAGCTGTATTCGAATTCGAGCTCGGTT-G
• gnomAD v4: 22-50697500-GGGCGGCCGCGGCATGGAGCGAGCCTGGCGCGCCCAGGAGCTGTATTCGAATTCGAGCTCGGTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697501_50697563del , CM000684.2:g.50697501_50697563del	GRCh38
NC_000022.10:g.51135929_51135991del , CM000684.1:g.51135929_51135991del	GRCh37
NC_000022.9:g.49482795_49482857del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-63_948-1del	ENSP00000489147.2:n.948-63_948-1del
ENST00000414786.7:n.1532-63_1532-1del
ENST00000673971.2:c.1305-63_1305-1del	ENSP00000501192.1:n.1305-63_1305-1del
ENST00000262795.6:c.948-63_948-1del	ENSP00000489147.2:n.948-63_948-1del
ENST00000673971.1:c.1305-63_1305-1del	ENSP00000501192.1:n.1305-63_1305-1del
ENST00000262795.5:c.1345-64_1345-2del	ENSP00000489147.1:n.1345-64_1345-2del
ENST00000414786.6:n.1532-63_1532-1del
ENST00000445220.5:c.1326-63_1326-1del	ENSP00000489407.1:n.1326-63_1326-1del