Canonical Allele Identifier: CA2819316453

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722179_50722180insACCCCAAA , CM000684.2:g.50722179_50722180insACCCCAAA	GRCh38
NC_000022.10:g.51160607_51160608insACCCCAAA , CM000684.1:g.51160607_51160608insACCCCAAA	GRCh37
NC_000022.9:g.49507473_49507474insACCCCAAA	NCBI36
NG_008607.2:g.52825_52826insACCCCAAA
NG_070230.1:g.57963_57964insACCCCAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3947_3948insACCCCAAA	ENSP00000489147.2:p.Ala1317ProfsTer?
ENST00000414786.7:n.4531_4532insACCCCAAA
ENST00000445220.7:c.2999_3000insACCCCAAA	ENSP00000489407.2:p.Ala1001ProfsTer?
ENST00000664402.2:c.2489_2490insACCCCAAA	ENSP00000499475.1:p.Ala831ProfsTer?
ENST00000673971.2:c.*2945_*2946insACCCCAAA	ENSP00000501192.1:n.*2945_*2946insACCCCAAA
ENST00000445220.6:c.2999_3000insACCCCAAA	ENSP00000489407.2:p.Ala1001ProfsTer?
ENST00000262795.6:c.3947_3948insACCCCAAA	ENSP00000489147.2:p.Ala1317ProfsTer?
ENST00000664402.1:c.2489_2490insACCCCAAA	ENSP00000499475.1:p.Ala831ProfsTer?
ENST00000673971.1:c.*2945_*2946insACCCCAAA	ENSP00000501192.1:n.*2945_*2946insACCCCAAA
ENST00000262795.5:c.4343_4344insACCCCAAA	ENSP00000489147.1:p.Ala1449ProfsTer?
ENST00000414786.6:n.4531_4532insACCCCAAA
ENST00000445220.5:c.4325_4326insACCCCAAA	ENSP00000489407.1:p.Ala1443ProfsTer?