Canonical Allele Identifier: CA2657583413

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720818-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720820del , CM000684.2:g.50720820del	GRCh38
NC_000022.10:g.51159248del , CM000684.1:g.51159248del	GRCh37
NC_000022.9:g.49506114del	NCBI36
NG_008607.2:g.51466del
NG_070230.1:g.56604del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2588del	ENSP00000489147.2:p.Gly863AlafsTer?
ENST00000414786.7:n.3172del
ENST00000445220.7:c.1640del	ENSP00000489407.2:p.Gly547AlafsTer?
ENST00000664402.2:c.1130del	ENSP00000499475.1:p.Gly377AlafsTer?
ENST00000673971.2:c.*1586del	ENSP00000501192.1:n.*1586del
ENST00000445220.6:c.1640del	ENSP00000489407.2:p.Gly547AlafsTer?
ENST00000262795.6:c.2588del	ENSP00000489147.2:p.Gly863AlafsTer?
ENST00000664402.1:c.1130del	ENSP00000499475.1:p.Gly377AlafsTer?
ENST00000673971.1:c.*1586del	ENSP00000501192.1:n.*1586del
ENST00000262795.5:c.2984del	ENSP00000489147.1:p.Gly995AlafsTer?
ENST00000414786.6:n.3172del
ENST00000445220.5:c.2966del	ENSP00000489407.1:p.Gly989AlafsTer?