Canonical Allele Identifier: CA754139093

Gene: SHANK3

Linked Data

• dbSNP Id: rs1167623291
• gnomAD v3: 22-50697901-TCC-T
• gnomAD v4: 22-50697901-TCC-T
• MyVariant Identifiers: chr22:g.51136330_51136331del (hg19) ; chr22:g.50697902_50697903del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697903_50697904del , CM000684.2:g.50697903_50697904del	GRCh38
NC_000022.10:g.51136331_51136332del , CM000684.1:g.51136331_51136332del	GRCh37
NC_000022.9:g.49483197_49483198del	NCBI36
NG_008607.2:g.28549_28550del
NG_070230.1:g.33767_33768del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1099+188_1099+189del	ENSP00000489147.2:n.1099+188_1099+189del
ENST00000414786.7:n.1683+188_1683+189del
ENST00000445220.7:c.151+188_151+189del	ENSP00000489407.2:n.151+188_151+189del
ENST00000673971.2:c.1456+188_1456+189del	ENSP00000501192.1:n.1456+188_1456+189del
ENST00000445220.6:c.151+188_151+189del	ENSP00000489407.2:n.151+188_151+189del
ENST00000262795.6:c.1099+188_1099+189del	ENSP00000489147.2:n.1099+188_1099+189del
ENST00000673971.1:c.1456+188_1456+189del	ENSP00000501192.1:n.1456+188_1456+189del
ENST00000673995.1:c.152+188_152+189del
ENST00000262795.5:c.1495+188_1495+189del	ENSP00000489147.1:n.1495+188_1495+189del
ENST00000414786.6:n.1683+188_1683+189del
ENST00000445220.5:c.1477+188_1477+189del	ENSP00000489407.1:n.1477+188_1477+189del