Canonical Allele Identifier: CA2847966880

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721017_50721018insTA , CM000684.2:g.50721017_50721018insTA	GRCh38
NC_000022.10:g.51159445_51159446insTA , CM000684.1:g.51159445_51159446insTA	GRCh37
NC_000022.9:g.49506311_49506312insTA	NCBI36
NG_008607.2:g.51663_51664insTA
NG_070230.1:g.56801_56802insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2785_2786insTA	ENSP00000489147.2:p.Pro929LeufsTer17
ENST00000414786.7:n.3369_3370insTA
ENST00000445220.7:c.1837_1838insTA	ENSP00000489407.2:p.Pro613LeufsTer17
ENST00000664402.2:c.1327_1328insTA	ENSP00000499475.1:p.Pro443LeufsTer17
ENST00000673971.2:c.*1783_*1784insTA	ENSP00000501192.1:n.*1783_*1784insTA
ENST00000445220.6:c.1837_1838insTA	ENSP00000489407.2:p.Pro613LeufsTer17
ENST00000262795.6:c.2785_2786insTA	ENSP00000489147.2:p.Pro929LeufsTer17
ENST00000664402.1:c.1327_1328insTA	ENSP00000499475.1:p.Pro443LeufsTer17
ENST00000673971.1:c.*1783_*1784insTA	ENSP00000501192.1:n.*1783_*1784insTA
ENST00000262795.5:c.3181_3182insTA	ENSP00000489147.1:p.Pro1061LeufsTer17
ENST00000414786.6:n.3369_3370insTA
ENST00000445220.5:c.3163_3164insTA	ENSP00000489407.1:p.Pro1055LeufsTer17