Canonical Allele Identifier: CA2819315855

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720606_50720609del , CM000684.2:g.50720606_50720609del	GRCh38
NC_000022.10:g.51159034_51159037del , CM000684.1:g.51159034_51159037del	GRCh37
NC_000022.9:g.49505900_49505903del	NCBI36
NG_008607.2:g.51252_51255del
NG_070230.1:g.56390_56393del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2374_2377del	ENSP00000489147.2:p.Pro792AlafsTer30
ENST00000414786.7:n.2958_2961del
ENST00000445220.7:c.1426_1429del	ENSP00000489407.2:p.Pro476AlafsTer30
ENST00000664402.2:c.916_919del	ENSP00000499475.1:p.Pro306AlafsTer30
ENST00000673971.2:c.*1372_*1375del	ENSP00000501192.1:n.*1372_*1375del
ENST00000445220.6:c.1426_1429del	ENSP00000489407.2:p.Pro476AlafsTer30
ENST00000262795.6:c.2374_2377del	ENSP00000489147.2:p.Pro792AlafsTer30
ENST00000664402.1:c.916_919del	ENSP00000499475.1:p.Pro306AlafsTer30
ENST00000673971.1:c.*1372_*1375del	ENSP00000501192.1:n.*1372_*1375del
ENST00000262795.5:c.2770_2773del	ENSP00000489147.1:p.Pro924AlafsTer30
ENST00000414786.6:n.2958_2961del
ENST00000445220.5:c.2752_2755del	ENSP00000489407.1:p.Pro918AlafsTer30