Canonical Allele Identifier: CA2819316113

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720856_50720894del , CM000684.2:g.50720856_50720894del	GRCh38
NC_000022.10:g.51159284_51159322del , CM000684.1:g.51159284_51159322del	GRCh37
NC_000022.9:g.49506150_49506188del	NCBI36
NG_008607.2:g.51502_51540del
NG_070230.1:g.56640_56678del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2624_2662del	ENSP00000489147.2:p.Ala875_Leu887del
ENST00000414786.7:n.3208_3246del
ENST00000445220.7:c.1676_1714del	ENSP00000489407.2:p.Ala559_Leu571del
ENST00000664402.2:c.1166_1204del	ENSP00000499475.1:p.Ala389_Leu401del
ENST00000673971.2:c.*1622_*1660del	ENSP00000501192.1:n.*1622_*1660del
ENST00000445220.6:c.1676_1714del	ENSP00000489407.2:p.Ala559_Leu571del
ENST00000262795.6:c.2624_2662del	ENSP00000489147.2:p.Ala875_Leu887del
ENST00000664402.1:c.1166_1204del	ENSP00000499475.1:p.Ala389_Leu401del
ENST00000673971.1:c.*1622_*1660del	ENSP00000501192.1:n.*1622_*1660del
ENST00000262795.5:c.3020_3058del	ENSP00000489147.1:p.Ala1007_Leu1019del
ENST00000414786.6:n.3208_3246del
ENST00000445220.5:c.3002_3040del	ENSP00000489407.1:p.Ala1001_Leu1013del