Canonical Allele Identifier: CA2657583131

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720421-TGGGCGCGGGCGCTGCCGGCCTGTACGAGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720430_50720459del , CM000684.2:g.50720430_50720459del	GRCh38
NC_000022.10:g.51158858_51158887del , CM000684.1:g.51158858_51158887del	GRCh37
NC_000022.9:g.49505724_49505753del	NCBI36
NG_008607.2:g.51076_51105del
NG_070230.1:g.56214_56243del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2198_2227del	ENSP00000489147.2:p.Gly733_Ala742del
ENST00000414786.7:n.2782_2811del
ENST00000445220.7:c.1250_1279del	ENSP00000489407.2:p.Gly417_Ala426del
ENST00000664402.2:c.740_769del	ENSP00000499475.1:p.Gly247_Ala256del
ENST00000673971.2:c.*1196_*1225del	ENSP00000501192.1:n.*1196_*1225del
ENST00000445220.6:c.1250_1279del	ENSP00000489407.2:p.Gly417_Ala426del
ENST00000262795.6:c.2198_2227del	ENSP00000489147.2:p.Gly733_Ala742del
ENST00000664402.1:c.740_769del	ENSP00000499475.1:p.Gly247_Ala256del
ENST00000673971.1:c.*1196_*1225del	ENSP00000501192.1:n.*1196_*1225del
ENST00000262795.5:c.2594_2623del	ENSP00000489147.1:p.Gly865_Ala874del
ENST00000414786.6:n.2782_2811del
ENST00000445220.5:c.2576_2605del	ENSP00000489407.1:p.Gly859_Ala868del