Canonical Allele Identifier: CA2657598779

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697612-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697615del , CM000684.2:g.50697615del	GRCh38
NC_000022.10:g.51136043del , CM000684.1:g.51136043del	GRCh37
NC_000022.9:g.49482909del	NCBI36
NG_008607.2:g.28261del
NG_070230.1:g.33480del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.999del	ENSP00000489147.2:p.Lys333AsnfsTer14
ENST00000414786.7:n.1583del
ENST00000445220.7:c.51del	ENSP00000489407.2:p.Lys17AsnfsTer14
ENST00000673971.2:c.1356del	ENSP00000501192.1:p.Lys452AsnfsTer14
ENST00000445220.6:c.51del	ENSP00000489407.2:p.Lys17AsnfsTer14
ENST00000262795.6:c.999del	ENSP00000489147.2:p.Lys333AsnfsTer14
ENST00000673971.1:c.1356del	ENSP00000501192.1:p.Lys452AsnfsTer14
ENST00000673995.1:c.52del
ENST00000262795.5:c.1395del	ENSP00000489147.1:p.Lys465AsnfsTer14
ENST00000414786.6:n.1583del
ENST00000445220.5:c.1377del	ENSP00000489407.1:p.Lys459AsnfsTer14