Canonical Allele Identifier: CA2657598654

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697590-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697591del , CM000684.2:g.50697591del	GRCh38
NC_000022.10:g.51136019del , CM000684.1:g.51136019del	GRCh37
NC_000022.9:g.49482885del	NCBI36
NG_008607.2:g.28237del
NG_070230.1:g.33456del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.975del	ENSP00000489147.2:p.Pro326ArgfsTer21
ENST00000414786.7:n.1559del
ENST00000445220.7:c.27del	ENSP00000489407.2:p.Pro10ArgfsTer21
ENST00000673971.2:c.1332del	ENSP00000501192.1:p.Pro445ArgfsTer21
ENST00000445220.6:c.27del	ENSP00000489407.2:p.Pro10ArgfsTer21
ENST00000262795.6:c.975del	ENSP00000489147.2:p.Pro326ArgfsTer21
ENST00000673971.1:c.1332del	ENSP00000501192.1:p.Pro445ArgfsTer21
ENST00000673995.1:c.28del
ENST00000262795.5:c.1371del	ENSP00000489147.1:p.Pro458ArgfsTer21
ENST00000414786.6:n.1559del
ENST00000445220.5:c.1353del	ENSP00000489407.1:p.Pro452ArgfsTer21