Canonical Allele Identifier: CA754138936

Gene: SHANK3

Linked Data

• dbSNP Id: rs1363778148
• gnomAD v4: 22-50697738-GGGGGGCGGGCCCGGCGCGGGGA-G
• MyVariant Identifiers: chr22:g.51136167_51136188del (hg19) ; chr22:g.50697739_50697760del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697747_50697768del , CM000684.2:g.50697747_50697768del	GRCh38
NC_000022.10:g.51136175_51136196del , CM000684.1:g.51136175_51136196del	GRCh37
NC_000022.9:g.49483041_49483062del	NCBI36
NG_008607.2:g.28393_28414del
NG_070230.1:g.33611_33632del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1099+32_1099+53del	ENSP00000489147.2:n.1099+32_1099+53del
ENST00000414786.7:n.1683+32_1683+53del
ENST00000445220.7:c.151+32_151+53del	ENSP00000489407.2:n.151+32_151+53del
ENST00000673971.2:c.1456+32_1456+53del	ENSP00000501192.1:n.1456+32_1456+53del
ENST00000445220.6:c.151+32_151+53del	ENSP00000489407.2:n.151+32_151+53del
ENST00000262795.6:c.1099+32_1099+53del	ENSP00000489147.2:n.1099+32_1099+53del
ENST00000673971.1:c.1456+32_1456+53del	ENSP00000501192.1:n.1456+32_1456+53del
ENST00000673995.1:c.152+32_152+53del
ENST00000262795.5:c.1495+32_1495+53del	ENSP00000489147.1:n.1495+32_1495+53del
ENST00000414786.6:n.1683+32_1683+53del
ENST00000445220.5:c.1477+32_1477+53del	ENSP00000489407.1:n.1477+32_1477+53del