Canonical Allele Identifier: CA2411007720

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720619_50720620delinsGC , CM000684.2:g.50720619_50720620delinsGC	GRCh38
NC_000022.10:g.51159047_51159048delinsGC , CM000684.1:g.51159047_51159048delinsGC	GRCh37
NC_000022.9:g.49505913_49505914delinsGC	NCBI36
NG_008607.2:g.51265_51266delinsGC
NG_070230.1:g.56403_56404delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2387_2388delinsGC	ENSP00000489147.2:p.Ser796=
ENST00000414786.7:n.2971_2972delinsGC
ENST00000445220.7:c.1439_1440delinsGC	ENSP00000489407.2:p.Ser480=
ENST00000664402.2:c.929_930delinsGC	ENSP00000499475.1:p.Ser310=
ENST00000673971.2:c.*1385_*1386delinsGC	ENSP00000501192.1:n.*1385_*1386delinsGC
ENST00000445220.6:c.1439_1440delinsGC	ENSP00000489407.2:p.Ser480=
ENST00000262795.6:c.2387_2388delinsGC	ENSP00000489147.2:p.Ser796=
ENST00000664402.1:c.929_930delinsGC	ENSP00000499475.1:p.Ser310=
ENST00000673971.1:c.*1385_*1386delinsGC	ENSP00000501192.1:n.*1385_*1386delinsGC
ENST00000262795.5:c.2783_2784delinsGC	ENSP00000489147.1:p.Ser928=
ENST00000414786.6:n.2971_2972delinsGC
ENST00000445220.5:c.2765_2766delinsGC	ENSP00000489407.1:p.Ser922=