Canonical Allele Identifier: CA2657598226

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697556-G-GGCCCCCGCGCCCGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697556_50697557insGCCCCCGCGCCCGGC , CM000684.2:g.50697556_50697557insGCCCCCGCGCCCGGC	GRCh38
NC_000022.10:g.51135984_51135985insGCCCCCGCGCCCGGC , CM000684.1:g.51135984_51135985insGCCCCCGCGCCCGGC	GRCh37
NC_000022.9:g.49482850_49482851insGCCCCCGCGCCCGGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-8_948-7insGCCCCCGCGCCCGGC	ENSP00000489147.2:n.948-8_948-7insGCCCCCGCGCCCGGC
ENST00000414786.7:n.1532-8_1532-7insGCCCCCGCGCCCGGC
ENST00000673971.2:c.1305-8_1305-7insGCCCCCGCGCCCGGC	ENSP00000501192.1:n.1305-8_1305-7insGCCCCCGCGCCCGGC
ENST00000262795.6:c.948-8_948-7insGCCCCCGCGCCCGGC	ENSP00000489147.2:n.948-8_948-7insGCCCCCGCGCCCGGC
ENST00000673971.1:c.1305-8_1305-7insGCCCCCGCGCCCGGC	ENSP00000501192.1:n.1305-8_1305-7insGCCCCCGCGCCCGGC
ENST00000262795.5:c.1345-9_1345-8insGCCCCCGCGCCCGGC	ENSP00000489147.1:n.1345-9_1345-8insGCCCCCGCGCCCGGC
ENST00000414786.6:n.1532-8_1532-7insGCCCCCGCGCCCGGC
ENST00000445220.5:c.1326-8_1326-7insGCCCCCGCGCCCGGC	ENSP00000489407.1:n.1326-8_1326-7insGCCCCCGCGCCCGGC