Canonical Allele Identifier: CA2657598040

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697547-CGAATTCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697548_50697554del , CM000684.2:g.50697548_50697554del	GRCh38
NC_000022.10:g.51135976_51135982del , CM000684.1:g.51135976_51135982del	GRCh37
NC_000022.9:g.49482842_49482848del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-16_948-10del	ENSP00000489147.2:n.948-16_948-10del
ENST00000414786.7:n.1532-16_1532-10del
ENST00000673971.2:c.1305-16_1305-10del	ENSP00000501192.1:n.1305-16_1305-10del
ENST00000262795.6:c.948-16_948-10del	ENSP00000489147.2:n.948-16_948-10del
ENST00000673971.1:c.1305-16_1305-10del	ENSP00000501192.1:n.1305-16_1305-10del
ENST00000262795.5:c.1345-17_1345-11del	ENSP00000489147.1:n.1345-17_1345-11del
ENST00000414786.6:n.1532-16_1532-10del
ENST00000445220.5:c.1326-16_1326-10del	ENSP00000489407.1:n.1326-16_1326-10del