Canonical Allele Identifier: CA2411007577

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720356_50720357delinsGC , CM000684.2:g.50720356_50720357delinsGC	GRCh38
NC_000022.10:g.51158784_51158785delinsGC , CM000684.1:g.51158784_51158785delinsGC	GRCh37
NC_000022.9:g.49505650_49505651delinsGC	NCBI36
NG_008607.2:g.51002_51003delinsGC
NG_070230.1:g.56140_56141delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2124_2125delinsGC	ENSP00000489147.2:p.Pro708=
ENST00000414786.7:n.2708_2709delinsGC
ENST00000445220.7:c.1176_1177delinsGC	ENSP00000489407.2:p.Pro392=
ENST00000664402.2:c.666_667delinsGC	ENSP00000499475.1:p.Pro222=
ENST00000673971.2:c.*1122_*1123delinsGC	ENSP00000501192.1:n.*1122_*1123delinsGC
ENST00000445220.6:c.1176_1177delinsGC	ENSP00000489407.2:p.Pro392=
ENST00000262795.6:c.2124_2125delinsGC	ENSP00000489147.2:p.Pro708=
ENST00000664402.1:c.666_667delinsGC	ENSP00000499475.1:p.Pro222=
ENST00000673971.1:c.*1122_*1123delinsGC	ENSP00000501192.1:n.*1122_*1123delinsGC
ENST00000262795.5:c.2520_2521delinsGC	ENSP00000489147.1:p.Pro840=
ENST00000414786.6:n.2708_2709delinsGC
ENST00000445220.5:c.2502_2503delinsGC	ENSP00000489407.1:p.Pro834=