Canonical Allele Identifier: CA1026687748

Gene: SHANK3

Linked Data

• dbSNP Id: rs2146799012
• gnomAD v3: 22-50697600-GGGCCCGA-G
• gnomAD v4: 22-50697600-GGGCCCGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697601_50697607del , CM000684.2:g.50697601_50697607del	GRCh38
NC_000022.10:g.51136029_51136035del , CM000684.1:g.51136029_51136035del	GRCh37
NC_000022.9:g.49482895_49482901del	NCBI36
NG_008607.2:g.28247_28253del
NG_070230.1:g.33466_33472del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.985_991del	ENSP00000489147.2:p.Gly329SerfsTer16
ENST00000414786.7:n.1569_1575del
ENST00000445220.7:c.37_43del	ENSP00000489407.2:p.Gly13SerfsTer16
ENST00000673971.2:c.1342_1348del	ENSP00000501192.1:p.Gly448SerfsTer16
ENST00000445220.6:c.37_43del	ENSP00000489407.2:p.Gly13SerfsTer16
ENST00000262795.6:c.985_991del	ENSP00000489147.2:p.Gly329SerfsTer16
ENST00000673971.1:c.1342_1348del	ENSP00000501192.1:p.Gly448SerfsTer16
ENST00000673995.1:c.38_44del
ENST00000262795.5:c.1381_1387del	ENSP00000489147.1:p.Gly461SerfsTer16
ENST00000414786.6:n.1569_1575del
ENST00000445220.5:c.1363_1369del	ENSP00000489407.1:p.Gly455SerfsTer16