Canonical Allele Identifier: CA2550773831

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721022_50721023insATT , CM000684.2:g.50721022_50721023insATT	GRCh38
NC_000022.10:g.51159450_51159451insATT , CM000684.1:g.51159450_51159451insATT	GRCh37
NC_000022.9:g.49506316_49506317insATT	NCBI36
NG_008607.2:g.51668_51669insATT
NG_070230.1:g.56806_56807insATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2790_2791insATT	ENSP00000489147.2:p.Thr930_Ala931insIle
ENST00000414786.7:n.3374_3375insATT
ENST00000445220.7:c.1842_1843insATT	ENSP00000489407.2:p.Thr614_Ala615insIle
ENST00000664402.2:c.1332_1333insATT	ENSP00000499475.1:p.Thr444_Ala445insIle
ENST00000673971.2:c.*1788_*1789insATT	ENSP00000501192.1:n.*1788_*1789insATT
ENST00000445220.6:c.1842_1843insATT	ENSP00000489407.2:p.Thr614_Ala615insIle
ENST00000262795.6:c.2790_2791insATT	ENSP00000489147.2:p.Thr930_Ala931insIle
ENST00000664402.1:c.1332_1333insATT	ENSP00000499475.1:p.Thr444_Ala445insIle
ENST00000673971.1:c.*1788_*1789insATT	ENSP00000501192.1:n.*1788_*1789insATT
ENST00000262795.5:c.3186_3187insATT	ENSP00000489147.1:p.Thr1062_Ala1063insIle
ENST00000414786.6:n.3374_3375insATT
ENST00000445220.5:c.3168_3169insATT	ENSP00000489407.1:p.Thr1056_Ala1057insIle