Canonical Allele Identifier: CA2530721057

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720602_50720615del , CM000684.2:g.50720602_50720615del	GRCh38
NC_000022.10:g.51159030_51159043del , CM000684.1:g.51159030_51159043del	GRCh37
NC_000022.9:g.49505896_49505909del	NCBI36
NG_008607.2:g.51248_51261del
NG_070230.1:g.56386_56399del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2370_2383del	ENSP00000489147.2:p.Pro791GlnfsTer?
ENST00000414786.7:n.2954_2967del
ENST00000445220.7:c.1422_1435del	ENSP00000489407.2:p.Pro475GlnfsTer?
ENST00000664402.2:c.912_925del	ENSP00000499475.1:p.Pro305GlnfsTer?
ENST00000673971.2:c.*1368_*1381del	ENSP00000501192.1:n.*1368_*1381del
ENST00000445220.6:c.1422_1435del	ENSP00000489407.2:p.Pro475GlnfsTer?
ENST00000262795.6:c.2370_2383del	ENSP00000489147.2:p.Pro791GlnfsTer?
ENST00000664402.1:c.912_925del	ENSP00000499475.1:p.Pro305GlnfsTer?
ENST00000673971.1:c.*1368_*1381del	ENSP00000501192.1:n.*1368_*1381del
ENST00000262795.5:c.2766_2779del	ENSP00000489147.1:p.Pro923GlnfsTer?
ENST00000414786.6:n.2954_2967del
ENST00000445220.5:c.2748_2761del	ENSP00000489407.1:p.Pro917GlnfsTer?