Canonical Allele Identifier: CA640358971

Gene: SHANK3

Linked Data

• dbSNP Id: rs1255145242
• gnomAD v2: 22-51159376-GC-G
• gnomAD v4: 22-50720948-GC-G
• MyVariant Identifiers: chr22:g.51159377del (hg19) ; chr22:g.50720949del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720953del , CM000684.2:g.50720953del	GRCh38
NC_000022.10:g.51159381del , CM000684.1:g.51159381del	GRCh37
NC_000022.9:g.49506247del	NCBI36
NG_008607.2:g.51599del
NG_070230.1:g.56737del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2721del	ENSP00000489147.2:p.Gly908AlafsTer?
ENST00000414786.7:n.3305del
ENST00000445220.7:c.1773del	ENSP00000489407.2:p.Gly592AlafsTer?
ENST00000664402.2:c.1263del	ENSP00000499475.1:p.Gly422AlafsTer?
ENST00000673971.2:c.*1719del	ENSP00000501192.1:n.*1719del
ENST00000445220.6:c.1773del	ENSP00000489407.2:p.Gly592AlafsTer?
ENST00000262795.6:c.2721del	ENSP00000489147.2:p.Gly908AlafsTer?
ENST00000664402.1:c.1263del	ENSP00000499475.1:p.Gly422AlafsTer?
ENST00000673971.1:c.*1719del	ENSP00000501192.1:n.*1719del
ENST00000262795.5:c.3117del	ENSP00000489147.1:p.Gly1040AlafsTer?
ENST00000414786.6:n.3305del
ENST00000445220.5:c.3099del	ENSP00000489407.1:p.Gly1034AlafsTer?