Canonical Allele Identifier: CA640359025

Gene: SHANK3

Linked Data

• dbSNP Id: rs1268334120
• gnomAD v2: 22-51136040-GAAA-G
• gnomAD v3: 22-50697612-GAAA-G
• gnomAD v4: 22-50697612-GAAA-G
• MyVariant Identifiers: chr22:g.51136041_51136043del (hg19) ; chr22:g.50697613_50697615del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697613_50697615del , CM000684.2:g.50697613_50697615del	GRCh38
NC_000022.10:g.51136041_51136043del , CM000684.1:g.51136041_51136043del	GRCh37
NC_000022.9:g.49482907_49482909del	NCBI36
NG_008607.2:g.28259_28261del
NG_070230.1:g.33478_33480del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.997_999del	ENSP00000489147.2:p.Lys333del
ENST00000414786.7:n.1581_1583del
ENST00000445220.7:c.49_51del	ENSP00000489407.2:p.Lys17del
ENST00000673971.2:c.1354_1356del	ENSP00000501192.1:p.Lys452del
ENST00000445220.6:c.49_51del	ENSP00000489407.2:p.Lys17del
ENST00000262795.6:c.997_999del	ENSP00000489147.2:p.Lys333del
ENST00000673971.1:c.1354_1356del	ENSP00000501192.1:p.Lys452del
ENST00000673995.1:c.50_52del
ENST00000262795.5:c.1393_1395del	ENSP00000489147.1:p.Lys465del
ENST00000414786.6:n.1581_1583del
ENST00000445220.5:c.1375_1377del	ENSP00000489407.1:p.Lys459del