Canonical Allele Identifier: CA2577768679

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720356_50720358dup , CM000684.2:g.50720356_50720358dup	GRCh38
NC_000022.10:g.51158784_51158786dup , CM000684.1:g.51158784_51158786dup	GRCh37
NC_000022.9:g.49505650_49505652dup	NCBI36
NG_008607.2:g.51002_51004dup
NG_070230.1:g.56140_56142dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2124_2126dup	ENSP00000489147.2:p.Pro709_Pro710insPro
ENST00000414786.7:n.2708_2710dup
ENST00000445220.7:c.1176_1178dup	ENSP00000489407.2:p.Pro393_Pro394insPro
ENST00000664402.2:c.666_668dup	ENSP00000499475.1:p.Pro223_Pro224insPro
ENST00000673971.2:c.*1122_*1124dup	ENSP00000501192.1:n.*1122_*1124dup
ENST00000445220.6:c.1176_1178dup	ENSP00000489407.2:p.Pro393_Pro394insPro
ENST00000262795.6:c.2124_2126dup	ENSP00000489147.2:p.Pro709_Pro710insPro
ENST00000664402.1:c.666_668dup	ENSP00000499475.1:p.Pro223_Pro224insPro
ENST00000673971.1:c.*1122_*1124dup	ENSP00000501192.1:n.*1122_*1124dup
ENST00000262795.5:c.2520_2522dup	ENSP00000489147.1:p.Pro841_Pro842insPro
ENST00000414786.6:n.2708_2710dup
ENST00000445220.5:c.2502_2504dup	ENSP00000489407.1:p.Pro835_Pro836insPro