Canonical Allele Identifier: CA2546940119

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697583_50697584insGCCGCCGGCCTCA , CM000684.2:g.50697583_50697584insGCCGCCGGCCTCA	GRCh38
NC_000022.10:g.51136011_51136012insGCCGCCGGCCTCA , CM000684.1:g.51136011_51136012insGCCGCCGGCCTCA	GRCh37
NC_000022.9:g.49482877_49482878insGCCGCCGGCCTCA	NCBI36
NG_008607.2:g.28229_28230insGCCGCCGGCCTCA
NG_070230.1:g.33448_33449insGCCGCCGGCCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.967_968insGCCGCCGGCCTCA	ENSP00000489147.2:p.Pro323ArgfsTer?
ENST00000414786.7:n.1551_1552insGCCGCCGGCCTCA
ENST00000445220.7:c.19_20insGCCGCCGGCCTCA	ENSP00000489407.2:p.Pro7ArgfsTer?
ENST00000673971.2:c.1324_1325insGCCGCCGGCCTCA	ENSP00000501192.1:p.Pro442ArgfsTer?
ENST00000445220.6:c.19_20insGCCGCCGGCCTCA	ENSP00000489407.2:p.Pro7ArgfsTer?
ENST00000262795.6:c.967_968insGCCGCCGGCCTCA	ENSP00000489147.2:p.Pro323ArgfsTer?
ENST00000673971.1:c.1324_1325insGCCGCCGGCCTCA	ENSP00000501192.1:p.Pro442ArgfsTer?
ENST00000673995.1:c.20_21insGCCGCCGGCCTCA
ENST00000262795.5:c.1363_1364insGCCGCCGGCCTCA	ENSP00000489147.1:p.Pro455ArgfsTer?
ENST00000414786.6:n.1551_1552insGCCGCCGGCCTCA
ENST00000445220.5:c.1345_1346insGCCGCCGGCCTCA	ENSP00000489407.1:p.Pro449ArgfsTer?