Canonical Allele Identifier: CA2657583029

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720355-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720356del , CM000684.2:g.50720356del	GRCh38
NC_000022.10:g.51158784del , CM000684.1:g.51158784del	GRCh37
NC_000022.9:g.49505650del	NCBI36
NG_008607.2:g.51002del
NG_070230.1:g.56140del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2124del	ENSP00000489147.2:p.Pro710ArgfsTer?
ENST00000414786.7:n.2708del
ENST00000445220.7:c.1176del	ENSP00000489407.2:p.Pro394ArgfsTer?
ENST00000664402.2:c.666del	ENSP00000499475.1:p.Pro224ArgfsTer?
ENST00000673971.2:c.*1122del	ENSP00000501192.1:n.*1122del
ENST00000445220.6:c.1176del	ENSP00000489407.2:p.Pro394ArgfsTer?
ENST00000262795.6:c.2124del	ENSP00000489147.2:p.Pro710ArgfsTer?
ENST00000664402.1:c.666del	ENSP00000499475.1:p.Pro224ArgfsTer?
ENST00000673971.1:c.*1122del	ENSP00000501192.1:n.*1122del
ENST00000262795.5:c.2520del	ENSP00000489147.1:p.Pro842ArgfsTer?
ENST00000414786.6:n.2708del
ENST00000445220.5:c.2502del	ENSP00000489407.1:p.Pro836ArgfsTer?