Canonical Allele Identifier: CA2657583381

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720683-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720685del , CM000684.2:g.50720685del	GRCh38
NC_000022.10:g.51159113del , CM000684.1:g.51159113del	GRCh37
NC_000022.9:g.49505979del	NCBI36
NG_008607.2:g.51331del
NG_070230.1:g.56469del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2453del	ENSP00000489147.2:p.Lys818ArgfsTer5
ENST00000414786.7:n.3037del
ENST00000445220.7:c.1505del	ENSP00000489407.2:p.Lys502ArgfsTer5
ENST00000664402.2:c.995del	ENSP00000499475.1:p.Lys332ArgfsTer5
ENST00000673971.2:c.*1451del	ENSP00000501192.1:n.*1451del
ENST00000445220.6:c.1505del	ENSP00000489407.2:p.Lys502ArgfsTer5
ENST00000262795.6:c.2453del	ENSP00000489147.2:p.Lys818ArgfsTer5
ENST00000664402.1:c.995del	ENSP00000499475.1:p.Lys332ArgfsTer5
ENST00000673971.1:c.*1451del	ENSP00000501192.1:n.*1451del
ENST00000262795.5:c.2849del	ENSP00000489147.1:p.Lys950ArgfsTer5
ENST00000414786.6:n.3037del
ENST00000445220.5:c.2831del	ENSP00000489407.1:p.Lys944ArgfsTer5