Canonical Allele Identifier: CA2657583368

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720623-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720624del , CM000684.2:g.50720624del	GRCh38
NC_000022.10:g.51159052del , CM000684.1:g.51159052del	GRCh37
NC_000022.9:g.49505918del	NCBI36
NG_008607.2:g.51270del
NG_070230.1:g.56408del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2392del	ENSP00000489147.2:p.Tyr798ThrfsTer25
ENST00000414786.7:n.2976del
ENST00000445220.7:c.1444del	ENSP00000489407.2:p.Tyr482ThrfsTer25
ENST00000664402.2:c.934del	ENSP00000499475.1:p.Tyr312ThrfsTer25
ENST00000673971.2:c.*1390del	ENSP00000501192.1:n.*1390del
ENST00000445220.6:c.1444del	ENSP00000489407.2:p.Tyr482ThrfsTer25
ENST00000262795.6:c.2392del	ENSP00000489147.2:p.Tyr798ThrfsTer25
ENST00000664402.1:c.934del	ENSP00000499475.1:p.Tyr312ThrfsTer25
ENST00000673971.1:c.*1390del	ENSP00000501192.1:n.*1390del
ENST00000262795.5:c.2788del	ENSP00000489147.1:p.Tyr930ThrfsTer25
ENST00000414786.6:n.2976del
ENST00000445220.5:c.2770del	ENSP00000489407.1:p.Tyr924ThrfsTer25