Canonical Allele Identifier: CA2657583370

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720633-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720634del , CM000684.2:g.50720634del	GRCh38
NC_000022.10:g.51159062del , CM000684.1:g.51159062del	GRCh37
NC_000022.9:g.49505928del	NCBI36
NG_008607.2:g.51280del
NG_070230.1:g.56418del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2402del	ENSP00000489147.2:p.Leu801ArgfsTer22
ENST00000414786.7:n.2986del
ENST00000445220.7:c.1454del	ENSP00000489407.2:p.Leu485ArgfsTer22
ENST00000664402.2:c.944del	ENSP00000499475.1:p.Leu315ArgfsTer22
ENST00000673971.2:c.*1400del	ENSP00000501192.1:n.*1400del
ENST00000445220.6:c.1454del	ENSP00000489407.2:p.Leu485ArgfsTer22
ENST00000262795.6:c.2402del	ENSP00000489147.2:p.Leu801ArgfsTer22
ENST00000664402.1:c.944del	ENSP00000499475.1:p.Leu315ArgfsTer22
ENST00000673971.1:c.*1400del	ENSP00000501192.1:n.*1400del
ENST00000262795.5:c.2798del	ENSP00000489147.1:p.Leu933ArgfsTer22
ENST00000414786.6:n.2986del
ENST00000445220.5:c.2780del	ENSP00000489407.1:p.Leu927ArgfsTer22