Canonical Allele Identifier: CA2411007976

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721015_50721016delinsGC , CM000684.2:g.50721015_50721016delinsGC	GRCh38
NC_000022.10:g.51159443_51159444delinsGC , CM000684.1:g.51159443_51159444delinsGC	GRCh37
NC_000022.9:g.49506309_49506310delinsGC	NCBI36
NG_008607.2:g.51661_51662delinsGC
NG_070230.1:g.56799_56800delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2783_2784delinsGC	ENSP00000489147.2:p.Gly928=
ENST00000414786.7:n.3367_3368delinsGC
ENST00000445220.7:c.1835_1836delinsGC	ENSP00000489407.2:p.Gly612=
ENST00000664402.2:c.1325_1326delinsGC	ENSP00000499475.1:p.Gly442=
ENST00000673971.2:c.*1781_*1782delinsGC	ENSP00000501192.1:n.*1781_*1782delinsGC
ENST00000445220.6:c.1835_1836delinsGC	ENSP00000489407.2:p.Gly612=
ENST00000262795.6:c.2783_2784delinsGC	ENSP00000489147.2:p.Gly928=
ENST00000664402.1:c.1325_1326delinsGC	ENSP00000499475.1:p.Gly442=
ENST00000673971.1:c.*1781_*1782delinsGC	ENSP00000501192.1:n.*1781_*1782delinsGC
ENST00000262795.5:c.3179_3180delinsGC	ENSP00000489147.1:p.Gly1060=
ENST00000414786.6:n.3367_3368delinsGC
ENST00000445220.5:c.3161_3162delinsGC	ENSP00000489407.1:p.Gly1054=