Canonical Allele Identifier: CA2657599017

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697676-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697678del , CM000684.2:g.50697678del	GRCh38
NC_000022.10:g.51136106del , CM000684.1:g.51136106del	GRCh37
NC_000022.9:g.49482972del	NCBI36
NG_008607.2:g.28324del
NG_070230.1:g.33543del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1062del	ENSP00000489147.2:p.Gly355AlafsTer11
ENST00000414786.7:n.1646del
ENST00000445220.7:c.114del	ENSP00000489407.2:p.Gly39AlafsTer11
ENST00000673971.2:c.1419del	ENSP00000501192.1:p.Gly474AlafsTer11
ENST00000445220.6:c.114del	ENSP00000489407.2:p.Gly39AlafsTer11
ENST00000262795.6:c.1062del	ENSP00000489147.2:p.Gly355AlafsTer11
ENST00000673971.1:c.1419del	ENSP00000501192.1:p.Gly474AlafsTer11
ENST00000673995.1:c.115del
ENST00000262795.5:c.1458del	ENSP00000489147.1:p.Gly487AlafsTer11
ENST00000414786.6:n.1646del
ENST00000445220.5:c.1440del	ENSP00000489407.1:p.Gly481AlafsTer11