Canonical Allele Identifier: CA325578189

Gene: SHANK3

Linked Data

• dbSNP Id: rs34279310
• gnomAD v4: 22-50720619-GC-G
• MyVariant Identifiers: chr22:g.51159048del (hg19) ; chr22:g.50720620del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720623del , CM000684.2:g.50720623del	GRCh38
NC_000022.10:g.51159051del , CM000684.1:g.51159051del	GRCh37
NC_000022.9:g.49505917del	NCBI36
NG_008607.2:g.51269del
NG_070230.1:g.56407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2391del	ENSP00000489147.2:p.Tyr798ThrfsTer25
ENST00000414786.7:n.2975del
ENST00000445220.7:c.1443del	ENSP00000489407.2:p.Tyr482ThrfsTer25
ENST00000664402.2:c.933del	ENSP00000499475.1:p.Tyr312ThrfsTer25
ENST00000673971.2:c.*1389del	ENSP00000501192.1:n.*1389del
ENST00000445220.6:c.1443del	ENSP00000489407.2:p.Tyr482ThrfsTer25
ENST00000262795.6:c.2391del	ENSP00000489147.2:p.Tyr798ThrfsTer25
ENST00000664402.1:c.933del	ENSP00000499475.1:p.Tyr312ThrfsTer25
ENST00000673971.1:c.*1389del	ENSP00000501192.1:n.*1389del
ENST00000262795.5:c.2787del	ENSP00000489147.1:p.Tyr930ThrfsTer25
ENST00000414786.6:n.2975del
ENST00000445220.5:c.2769del	ENSP00000489407.1:p.Tyr924ThrfsTer25