Canonical Allele Identifier: CA2657598494

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697569-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697570dup , CM000684.2:g.50697570dup	GRCh38
NC_000022.10:g.51135998dup , CM000684.1:g.51135998dup	GRCh37
NC_000022.9:g.49482864dup	NCBI36
NG_008607.2:g.28216dup
NG_070230.1:g.33435dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.954dup	ENSP00000489147.2:p.Pro319AlafsTer?
ENST00000414786.7:n.1538dup
ENST00000445220.7:c.6dup	ENSP00000489407.2:p.Pro3AlafsTer?
ENST00000673971.2:c.1311dup	ENSP00000501192.1:p.Pro438AlafsTer?
ENST00000445220.6:c.6dup	ENSP00000489407.2:p.Pro3AlafsTer?
ENST00000262795.6:c.954dup	ENSP00000489147.2:p.Pro319AlafsTer?
ENST00000673971.1:c.1311dup	ENSP00000501192.1:p.Pro438AlafsTer?
ENST00000673995.1:c.7dup
ENST00000262795.5:c.1350dup	ENSP00000489147.1:p.Pro451AlafsTer?
ENST00000414786.6:n.1538dup
ENST00000445220.5:c.1332dup	ENSP00000489407.1:p.Pro445AlafsTer?