Canonical Allele Identifier: CA2657598573

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697579-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697584_50697585del , CM000684.2:g.50697584_50697585del	GRCh38
NC_000022.10:g.51136012_51136013del , CM000684.1:g.51136012_51136013del	GRCh37
NC_000022.9:g.49482878_49482879del	NCBI36
NG_008607.2:g.28230_28231del
NG_070230.1:g.33449_33450del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.968_969del	ENSP00000489147.2:p.Pro323ArgfsTer?
ENST00000414786.7:n.1552_1553del
ENST00000445220.7:c.20_21del	ENSP00000489407.2:p.Pro7ArgfsTer?
ENST00000673971.2:c.1325_1326del	ENSP00000501192.1:p.Pro442ArgfsTer?
ENST00000445220.6:c.20_21del	ENSP00000489407.2:p.Pro7ArgfsTer?
ENST00000262795.6:c.968_969del	ENSP00000489147.2:p.Pro323ArgfsTer?
ENST00000673971.1:c.1325_1326del	ENSP00000501192.1:p.Pro442ArgfsTer?
ENST00000673995.1:c.21_22del
ENST00000262795.5:c.1364_1365del	ENSP00000489147.1:p.Pro455ArgfsTer?
ENST00000414786.6:n.1552_1553del
ENST00000445220.5:c.1346_1347del	ENSP00000489407.1:p.Pro449ArgfsTer?