Canonical Allele Identifier: CA10326262

Gene: SHANK3

Linked Data

• dbSNP Id: rs766541972
• ExAC: 22:51160608 CGCCTCTGCCGGGCTG / C
• gnomAD v2: 22-51160608-CGCCTCTGCCGGGCTG-C
• gnomAD v4: 22-50722180-CGCCTCTGCCGGGCTG-C
• MyVariant Identifiers: chr22:g.51160609_51160623del (hg19) ; chr22:g.50722181_50722195del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722191_50722205del , CM000684.2:g.50722191_50722205del	GRCh38
NC_000022.10:g.51160619_51160633del , CM000684.1:g.51160619_51160633del	GRCh37
NC_000022.9:g.49507485_49507499del	NCBI36
NG_008607.2:g.52837_52851del
NG_070230.1:g.57975_57989del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3959_3973del	ENSP00000489147.2:p.Gly1320_Ala1324del
ENST00000414786.7:n.4543_4557del
ENST00000445220.7:c.3011_3025del	ENSP00000489407.2:p.Gly1004_Ala1008del
ENST00000664402.2:c.2501_2515del	ENSP00000499475.1:p.Gly834_Ala838del
ENST00000673971.2:c.*2957_*2971del	ENSP00000501192.1:n.*2957_*2971del
ENST00000445220.6:c.3011_3025del	ENSP00000489407.2:p.Gly1004_Ala1008del
ENST00000262795.6:c.3959_3973del	ENSP00000489147.2:p.Gly1320_Ala1324del
ENST00000664402.1:c.2501_2515del	ENSP00000499475.1:p.Gly834_Ala838del
ENST00000673971.1:c.*2957_*2971del	ENSP00000501192.1:n.*2957_*2971del
ENST00000262795.5:c.4355_4369del	ENSP00000489147.1:p.Gly1452_Ala1456del
ENST00000414786.6:n.4543_4557del
ENST00000445220.5:c.4337_4351del	ENSP00000489407.1:p.Gly1446_Ala1450del