Canonical Allele Identifier: CA754094829

Gene: SHANK3

Linked Data

• dbSNP Id: rs1186012924
• MyVariant Identifiers: chr22:g.51160501_51160506del (hg19) ; chr22:g.50722073_50722078del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722080_50722085del , CM000684.2:g.50722080_50722085del	GRCh38
NC_000022.10:g.51160508_51160513del , CM000684.1:g.51160508_51160513del	GRCh37
NC_000022.9:g.49507374_49507379del	NCBI36
NG_008607.2:g.52726_52731del
NG_070230.1:g.57864_57869del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3848_3853del	ENSP00000489147.2:p.Pro1283_Lys1284del
ENST00000414786.7:n.4432_4437del
ENST00000445220.7:c.2900_2905del	ENSP00000489407.2:p.Pro967_Lys968del
ENST00000664402.2:c.2390_2395del	ENSP00000499475.1:p.Pro797_Lys798del
ENST00000673971.2:c.*2846_*2851del	ENSP00000501192.1:n.*2846_*2851del
ENST00000445220.6:c.2900_2905del	ENSP00000489407.2:p.Pro967_Lys968del
ENST00000262795.6:c.3848_3853del	ENSP00000489147.2:p.Pro1283_Lys1284del
ENST00000664402.1:c.2390_2395del	ENSP00000499475.1:p.Pro797_Lys798del
ENST00000673971.1:c.*2846_*2851del	ENSP00000501192.1:n.*2846_*2851del
ENST00000262795.5:c.4244_4249del	ENSP00000489147.1:p.Pro1415_Lys1416del
ENST00000414786.6:n.4432_4437del
ENST00000445220.5:c.4226_4231del	ENSP00000489407.1:p.Pro1409_Lys1410del