Canonical Allele Identifier: CA2657598789

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697616-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697619del , CM000684.2:g.50697619del	GRCh38
NC_000022.10:g.51136047del , CM000684.1:g.51136047del	GRCh37
NC_000022.9:g.49482913del	NCBI36
NG_008607.2:g.28265del
NG_070230.1:g.33484del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1003del	ENSP00000489147.2:p.Tyr335ThrfsTer12
ENST00000414786.7:n.1587del
ENST00000445220.7:c.55del	ENSP00000489407.2:p.Tyr19ThrfsTer12
ENST00000673971.2:c.1360del	ENSP00000501192.1:p.Tyr454ThrfsTer12
ENST00000445220.6:c.55del	ENSP00000489407.2:p.Tyr19ThrfsTer12
ENST00000262795.6:c.1003del	ENSP00000489147.2:p.Tyr335ThrfsTer12
ENST00000673971.1:c.1360del	ENSP00000501192.1:p.Tyr454ThrfsTer12
ENST00000673995.1:c.56del
ENST00000262795.5:c.1399del	ENSP00000489147.1:p.Tyr467ThrfsTer12
ENST00000414786.6:n.1587del
ENST00000445220.5:c.1381del	ENSP00000489407.1:p.Tyr461ThrfsTer12