Canonical Allele Identifier: CA2577768312

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697594-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697598del , CM000684.2:g.50697598del	GRCh38
NC_000022.10:g.51136026del , CM000684.1:g.51136026del	GRCh37
NC_000022.9:g.49482892del	NCBI36
NG_008607.2:g.28244del
NG_070230.1:g.33463del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.982del	ENSP00000489147.2:p.Arg328GlyfsTer19
ENST00000414786.7:n.1566del
ENST00000445220.7:c.34del	ENSP00000489407.2:p.Arg12GlyfsTer19
ENST00000673971.2:c.1339del	ENSP00000501192.1:p.Arg447GlyfsTer19
ENST00000445220.6:c.34del	ENSP00000489407.2:p.Arg12GlyfsTer19
ENST00000262795.6:c.982del	ENSP00000489147.2:p.Arg328GlyfsTer19
ENST00000673971.1:c.1339del	ENSP00000501192.1:p.Arg447GlyfsTer19
ENST00000673995.1:c.35del
ENST00000262795.5:c.1378del	ENSP00000489147.1:p.Arg460GlyfsTer19
ENST00000414786.6:n.1566del
ENST00000445220.5:c.1360del	ENSP00000489407.1:p.Arg454GlyfsTer19