Canonical Allele Identifier: CA2657598874

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697637-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697638del , CM000684.2:g.50697638del	GRCh38
NC_000022.10:g.51136066del , CM000684.1:g.51136066del	GRCh37
NC_000022.9:g.49482932del	NCBI36
NG_008607.2:g.28284del
NG_070230.1:g.33503del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1022del	ENSP00000489147.2:p.Arg341ProfsTer6
ENST00000414786.7:n.1606del
ENST00000445220.7:c.74del	ENSP00000489407.2:p.Arg25ProfsTer6
ENST00000673971.2:c.1379del	ENSP00000501192.1:p.Arg460ProfsTer6
ENST00000445220.6:c.74del	ENSP00000489407.2:p.Arg25ProfsTer6
ENST00000262795.6:c.1022del	ENSP00000489147.2:p.Arg341ProfsTer6
ENST00000673971.1:c.1379del	ENSP00000501192.1:p.Arg460ProfsTer6
ENST00000673995.1:c.75del
ENST00000262795.5:c.1418del	ENSP00000489147.1:p.Arg473ProfsTer6
ENST00000414786.6:n.1606del
ENST00000445220.5:c.1400del	ENSP00000489407.1:p.Arg467ProfsTer6