Canonical Allele Identifier: CA2657598971

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697660-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697661del , CM000684.2:g.50697661del	GRCh38
NC_000022.10:g.51136089del , CM000684.1:g.51136089del	GRCh37
NC_000022.9:g.49482955del	NCBI36
NG_008607.2:g.28307del
NG_070230.1:g.33526del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1045del	ENSP00000489147.2:p.His349ThrfsTer17
ENST00000414786.7:n.1629del
ENST00000445220.7:c.97del	ENSP00000489407.2:p.His33ThrfsTer17
ENST00000673971.2:c.1402del	ENSP00000501192.1:p.His468ThrfsTer17
ENST00000445220.6:c.97del	ENSP00000489407.2:p.His33ThrfsTer17
ENST00000262795.6:c.1045del	ENSP00000489147.2:p.His349ThrfsTer17
ENST00000673971.1:c.1402del	ENSP00000501192.1:p.His468ThrfsTer17
ENST00000673995.1:c.98del
ENST00000262795.5:c.1441del	ENSP00000489147.1:p.His481ThrfsTer17
ENST00000414786.6:n.1629del
ENST00000445220.5:c.1423del	ENSP00000489407.1:p.His475ThrfsTer17