Canonical Allele Identifier: CA1026687724

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697593-C-CGT
• gnomAD v4: 22-50697593-C-CGT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697594_50697595insTG , CM000684.2:g.50697594_50697595insTG	GRCh38
NC_000022.10:g.51136022_51136023insTG , CM000684.1:g.51136022_51136023insTG	GRCh37
NC_000022.9:g.49482888_49482889insTG	NCBI36
NG_008607.2:g.28240_28241insTG
NG_070230.1:g.33459_33460insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.978_979insTG	ENSP00000489147.2:p.Pro327CysfsTer21
ENST00000414786.7:n.1562_1563insTG
ENST00000445220.7:c.30_31insTG	ENSP00000489407.2:p.Pro11CysfsTer21
ENST00000673971.2:c.1335_1336insTG	ENSP00000501192.1:p.Pro446CysfsTer21
ENST00000445220.6:c.30_31insTG	ENSP00000489407.2:p.Pro11CysfsTer21
ENST00000262795.6:c.978_979insTG	ENSP00000489147.2:p.Pro327CysfsTer21
ENST00000673971.1:c.1335_1336insTG	ENSP00000501192.1:p.Pro446CysfsTer21
ENST00000673995.1:c.31_32insTG
ENST00000262795.5:c.1374_1375insTG	ENSP00000489147.1:p.Pro459CysfsTer21
ENST00000414786.6:n.1562_1563insTG
ENST00000445220.5:c.1356_1357insTG	ENSP00000489407.1:p.Pro453CysfsTer21