Canonical Allele Identifier: CA640359020

Gene: SHANK3

Linked Data

• dbSNP Id: rs1302054318
• gnomAD v2: 22-51136022-G-GGGC
• gnomAD v3: 22-50697594-G-GGGC
• gnomAD v4: 22-50697594-G-GGGC
• MyVariant Identifiers: chr22:g.51136022_51136023insGGC (hg19) ; chr22:g.50697594_50697595insGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697594_50697595insGGC , CM000684.2:g.50697594_50697595insGGC	GRCh38
NC_000022.10:g.51136022_51136023insGGC , CM000684.1:g.51136022_51136023insGGC	GRCh37
NC_000022.9:g.49482888_49482889insGGC	NCBI36
NG_008607.2:g.28240_28241insGGC
NG_070230.1:g.33459_33460insGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.978_979insGGC	ENSP00000489147.2:p.Pro326_Pro327insGly
ENST00000414786.7:n.1562_1563insGGC
ENST00000445220.7:c.30_31insGGC	ENSP00000489407.2:p.Pro10_Pro11insGly
ENST00000673971.2:c.1335_1336insGGC	ENSP00000501192.1:p.Pro445_Pro446insGly
ENST00000445220.6:c.30_31insGGC	ENSP00000489407.2:p.Pro10_Pro11insGly
ENST00000262795.6:c.978_979insGGC	ENSP00000489147.2:p.Pro326_Pro327insGly
ENST00000673971.1:c.1335_1336insGGC	ENSP00000501192.1:p.Pro445_Pro446insGly
ENST00000673995.1:c.31_32insGGC
ENST00000262795.5:c.1374_1375insGGC	ENSP00000489147.1:p.Pro458_Pro459insGly
ENST00000414786.6:n.1562_1563insGGC
ENST00000445220.5:c.1356_1357insGGC	ENSP00000489407.1:p.Pro452_Pro453insGly