Canonical Allele Identifier: CA16621797
Gene: SHANK3 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.50697712del
GRCh37 chr22:g.51136140del
gnomAD v4:
chr22-50697711-GA-G
Joint Max Group AF 3.8e-7 (NFE)
Exomes Max Group AF 4.1e-7 (NFE)
ClinVar RCV:
RCV000487584
ClinVar Variation:
425286
dbSNP:
1064797290
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697713del , CM000684.2:g.50697713del GRCh38
NC_000022.10:g.51136141del , CM000684.1:g.51136141del GRCh37
NC_000022.9:g.49483007del NCBI36
NG_008607.2:g.28359del
NG_070230.1:g.33578del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.1097del ENSP00000489147.2:p.Lys366ArgfsTer15
ENST00000414786.7:n.1681del
ENST00000445220.7:c.149del ENSP00000489407.2:p.Lys50ArgfsTer15
ENST00000673971.2:c.1454del ENSP00000501192.1:p.Lys485ArgfsTer15
ENST00000445220.6:c.149del ENSP00000489407.2:p.Lys50ArgfsTer15
ENST00000262795.6:c.1097del ENSP00000489147.2:p.Lys366ArgfsTer15
ENST00000673971.1:c.1454del ENSP00000501192.1:p.Lys485ArgfsTer15
ENST00000673995.1:c.150del
ENST00000262795.5:c.1493del ENSP00000489147.1:p.Lys498ArgfsTer15
ENST00000414786.6:n.1681del
ENST00000445220.5:c.1475del ENSP00000489407.1:p.Lys492ArgfsTer15
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