Canonical Allele Identifier: CA2657583146

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720434-TGCCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720438_50720441del , CM000684.2:g.50720438_50720441del	GRCh38
NC_000022.10:g.51158866_51158869del , CM000684.1:g.51158866_51158869del	GRCh37
NC_000022.9:g.49505732_49505735del	NCBI36
NG_008607.2:g.51084_51087del
NG_070230.1:g.56222_56225del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2206_2209del	ENSP00000489147.2:p.Gly736CysfsTer23
ENST00000414786.7:n.2790_2793del
ENST00000445220.7:c.1258_1261del	ENSP00000489407.2:p.Gly420CysfsTer23
ENST00000664402.2:c.748_751del	ENSP00000499475.1:p.Gly250CysfsTer23
ENST00000673971.2:c.*1204_*1207del	ENSP00000501192.1:n.*1204_*1207del
ENST00000445220.6:c.1258_1261del	ENSP00000489407.2:p.Gly420CysfsTer23
ENST00000262795.6:c.2206_2209del	ENSP00000489147.2:p.Gly736CysfsTer23
ENST00000664402.1:c.748_751del	ENSP00000499475.1:p.Gly250CysfsTer23
ENST00000673971.1:c.*1204_*1207del	ENSP00000501192.1:n.*1204_*1207del
ENST00000262795.5:c.2602_2605del	ENSP00000489147.1:p.Gly868CysfsTer23
ENST00000414786.6:n.2790_2793del
ENST00000445220.5:c.2584_2587del	ENSP00000489407.1:p.Gly862CysfsTer23