Canonical Allele Identifier: CA2657598427

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697563-T-TGCGCCCGGCCCCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697563_50697564insGCGCCCGGCCCCGG , CM000684.2:g.50697563_50697564insGCGCCCGGCCCCGG	GRCh38
NC_000022.10:g.51135991_51135992insGCGCCCGGCCCCGG , CM000684.1:g.51135991_51135992insGCGCCCGGCCCCGG	GRCh37
NC_000022.9:g.49482857_49482858insGCGCCCGGCCCCGG	NCBI36
NG_008607.2:g.28209_28210insGCGCCCGGCCCCGG
NG_070230.1:g.33428_33429insGCGCCCGGCCCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-1_948insGCGCCCGGCCCCGG	ENSP00000489147.2:n.948-1_948insGCGCCCGGCCCCGG
ENST00000414786.7:n.1532-1_1532insGCGCCCGGCCCCGG
ENST00000673971.2:c.1305-1_1305insGCGCCCGGCCCCGG	ENSP00000501192.1:n.1305-1_1305insGCGCCCGGCCCCGG
ENST00000262795.6:c.948-1_948insGCGCCCGGCCCCGG	ENSP00000489147.2:n.948-1_948insGCGCCCGGCCCCGG
ENST00000673971.1:c.1305-1_1305insGCGCCCGGCCCCGG	ENSP00000501192.1:n.1305-1_1305insGCGCCCGGCCCCGG
ENST00000673995.1:c.1-1_1insGCGCCCGGCCCCGG
ENST00000262795.5:c.1345-2_1345-1insGCGCCCGGCCCCGG	ENSP00000489147.1:n.1345-2_1345-1insGCGCCCGGCCCCGG
ENST00000414786.6:n.1532-1_1532insGCGCCCGGCCCCGG
ENST00000445220.5:c.1326-1_1326insGCGCCCGGCCCCGG	ENSP00000489407.1:n.1326-1_1326insGCGCCCGGCCCCGG