Canonical Allele Identifier: CA1026686714

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697499-GGGGCGGC-G
• gnomAD v4: 22-50697499-GGGGCGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697500_50697506del , CM000684.2:g.50697500_50697506del	GRCh38
NC_000022.10:g.51135928_51135934del , CM000684.1:g.51135928_51135934del	GRCh37
NC_000022.9:g.49482794_49482800del	NCBI36
NG_008607.2:g.27859_27865del
NG_070230.1:g.33078_33084del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-64_948-58del	ENSP00000489147.2:n.948-64_948-58del
ENST00000414786.7:n.1532-64_1532-58del
ENST00000673971.2:c.1305-64_1305-58del	ENSP00000501192.1:n.1305-64_1305-58del
ENST00000262795.6:c.948-64_948-58del	ENSP00000489147.2:n.948-64_948-58del
ENST00000673971.1:c.1305-64_1305-58del	ENSP00000501192.1:n.1305-64_1305-58del
ENST00000262795.5:c.1345-65_1345-59del	ENSP00000489147.1:n.1345-65_1345-59del
ENST00000414786.6:n.1532-64_1532-58del
ENST00000445220.5:c.1326-64_1326-58del	ENSP00000489407.1:n.1326-64_1326-58del