Canonical Allele Identifier: CA2549124200

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720601_50720602insACCTGCTGCT , CM000684.2:g.50720601_50720602insACCTGCTGCT	GRCh38
NC_000022.10:g.51159029_51159030insACCTGCTGCT , CM000684.1:g.51159029_51159030insACCTGCTGCT	GRCh37
NC_000022.9:g.49505895_49505896insACCTGCTGCT	NCBI36
NG_008607.2:g.51247_51248insACCTGCTGCT
NG_070230.1:g.56385_56386insACCTGCTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2369_2370insACCTGCTGCT	ENSP00000489147.2:p.Pro792AlafsTer?
ENST00000414786.7:n.2953_2954insACCTGCTGCT
ENST00000445220.7:c.1421_1422insACCTGCTGCT	ENSP00000489407.2:p.Pro476AlafsTer?
ENST00000664402.2:c.911_912insACCTGCTGCT	ENSP00000499475.1:p.Pro306AlafsTer?
ENST00000673971.2:c.*1367_*1368insACCTGCTGCT	ENSP00000501192.1:n.*1367_*1368insACCTGCTGCT
ENST00000445220.6:c.1421_1422insACCTGCTGCT	ENSP00000489407.2:p.Pro476AlafsTer?
ENST00000262795.6:c.2369_2370insACCTGCTGCT	ENSP00000489147.2:p.Pro792AlafsTer?
ENST00000664402.1:c.911_912insACCTGCTGCT	ENSP00000499475.1:p.Pro306AlafsTer?
ENST00000673971.1:c.*1367_*1368insACCTGCTGCT	ENSP00000501192.1:n.*1367_*1368insACCTGCTGCT
ENST00000262795.5:c.2765_2766insACCTGCTGCT	ENSP00000489147.1:p.Pro924AlafsTer?
ENST00000414786.6:n.2953_2954insACCTGCTGCT
ENST00000445220.5:c.2747_2748insACCTGCTGCT	ENSP00000489407.1:p.Pro918AlafsTer?