Canonical Allele Identifier: CA2657583013

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720348-TCGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720356_50720358del , CM000684.2:g.50720356_50720358del	GRCh38
NC_000022.10:g.51158784_51158786del , CM000684.1:g.51158784_51158786del	GRCh37
NC_000022.9:g.49505650_49505652del	NCBI36
NG_008607.2:g.51002_51004del
NG_070230.1:g.56140_56142del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2124_2126del	ENSP00000489147.2:p.Pro709del
ENST00000414786.7:n.2708_2710del
ENST00000445220.7:c.1176_1178del	ENSP00000489407.2:p.Pro393del
ENST00000664402.2:c.666_668del	ENSP00000499475.1:p.Pro223del
ENST00000673971.2:c.*1122_*1124del	ENSP00000501192.1:n.*1122_*1124del
ENST00000445220.6:c.1176_1178del	ENSP00000489407.2:p.Pro393del
ENST00000262795.6:c.2124_2126del	ENSP00000489147.2:p.Pro709del
ENST00000664402.1:c.666_668del	ENSP00000499475.1:p.Pro223del
ENST00000673971.1:c.*1122_*1124del	ENSP00000501192.1:n.*1122_*1124del
ENST00000262795.5:c.2520_2522del	ENSP00000489147.1:p.Pro841del
ENST00000414786.6:n.2708_2710del
ENST00000445220.5:c.2502_2504del	ENSP00000489407.1:p.Pro835del