Canonical Allele Identifier: CA2411007565

Gene: SHANK3

Linked Data

• dbSNP Id: rs1276304417
• gnomAD v4: 22-50720331-GGCCGCCCCCGGCCTTCTCGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720342_50720362del , CM000684.2:g.50720342_50720362del	GRCh38
NC_000022.10:g.51158770_51158790del , CM000684.1:g.51158770_51158790del	GRCh37
NC_000022.9:g.49505636_49505656del	NCBI36
NG_008607.2:g.50988_51008del
NG_070230.1:g.56126_56146del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2110_2130del	ENSP00000489147.2:p.Ala704_Pro710del
ENST00000414786.7:n.2694_2714del
ENST00000445220.7:c.1162_1182del	ENSP00000489407.2:p.Ala388_Pro394del
ENST00000664402.2:c.652_672del	ENSP00000499475.1:p.Ala218_Pro224del
ENST00000673971.2:c.*1108_*1128del	ENSP00000501192.1:n.*1108_*1128del
ENST00000445220.6:c.1162_1182del	ENSP00000489407.2:p.Ala388_Pro394del
ENST00000262795.6:c.2110_2130del	ENSP00000489147.2:p.Ala704_Pro710del
ENST00000664402.1:c.652_672del	ENSP00000499475.1:p.Ala218_Pro224del
ENST00000673971.1:c.*1108_*1128del	ENSP00000501192.1:n.*1108_*1128del
ENST00000262795.5:c.2506_2526del	ENSP00000489147.1:p.Ala836_Pro842del
ENST00000414786.6:n.2694_2714del
ENST00000445220.5:c.2488_2508del	ENSP00000489407.1:p.Ala830_Pro836del