Canonical Allele Identifier: CA640057528

Gene: SHANK3

Linked Data

• dbSNP Id: rs1421717721
• gnomAD v2: 22-51153267-GTGGCCGGGT-G
• gnomAD v3: 22-50714839-GTGGCCGGGT-G
• gnomAD v4: 22-50714839-GTGGCCGGGT-G
• MyVariant Identifiers: chr22:g.51153268_51153276del (hg19) ; chr22:g.50714840_50714848del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50714843_50714851del , CM000684.2:g.50714843_50714851del	GRCh38
NC_000022.10:g.51153271_51153279del , CM000684.1:g.51153271_51153279del	GRCh37
NC_000022.9:g.49500137_49500145del	NCBI36
NG_008607.2:g.45489_45497del
NG_070230.1:g.50709_50717del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.1736-74_1736-66del	ENSP00000489147.2:n.1736-74_1736-66del
ENST00000414786.7:n.2320-74_2320-66del
ENST00000445220.7:c.788-74_788-66del	ENSP00000489407.2:n.788-74_788-66del
ENST00000664402.2:c.278-74_278-66del	ENSP00000499475.1:n.278-74_278-66del
ENST00000673971.2:c.*734-74_*734-66del	ENSP00000501192.1:n.*734-74_*734-66del
ENST00000445220.6:c.788-74_788-66del	ENSP00000489407.2:n.788-74_788-66del
ENST00000262795.6:c.1736-74_1736-66del	ENSP00000489147.2:n.1736-74_1736-66del
ENST00000664402.1:c.278-74_278-66del	ENSP00000499475.1:n.278-74_278-66del
ENST00000673971.1:c.*734-74_*734-66del	ENSP00000501192.1:n.*734-74_*734-66del
ENST00000262795.5:c.2132-74_2132-66del	ENSP00000489147.1:n.2132-74_2132-66del
ENST00000414786.6:n.2320-74_2320-66del
ENST00000445220.5:c.2114-74_2114-66del	ENSP00000489407.1:n.2114-74_2114-66del