Canonical Allele Identifier: CA2657598768

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697610-C-CGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697611_50697612insCTG , CM000684.2:g.50697611_50697612insCTG	GRCh38
NC_000022.10:g.51136039_51136040insCTG , CM000684.1:g.51136039_51136040insCTG	GRCh37
NC_000022.9:g.49482905_49482906insCTG	NCBI36
NG_008607.2:g.28257_28258insCTG
NG_070230.1:g.33476_33477insCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.995_996insCTG	ENSP00000489147.2:p.Arg332_Lys333insTrp
ENST00000414786.7:n.1579_1580insCTG
ENST00000445220.7:c.47_48insCTG	ENSP00000489407.2:p.Arg16_Lys17insTrp
ENST00000673971.2:c.1352_1353insCTG	ENSP00000501192.1:p.Arg451_Lys452insTrp
ENST00000445220.6:c.47_48insCTG	ENSP00000489407.2:p.Arg16_Lys17insTrp
ENST00000262795.6:c.995_996insCTG	ENSP00000489147.2:p.Arg332_Lys333insTrp
ENST00000673971.1:c.1352_1353insCTG	ENSP00000501192.1:p.Arg451_Lys452insTrp
ENST00000673995.1:c.48_49insCTG
ENST00000262795.5:c.1391_1392insCTG	ENSP00000489147.1:p.Arg464_Lys465insTrp
ENST00000414786.6:n.1579_1580insCTG
ENST00000445220.5:c.1373_1374insCTG	ENSP00000489407.1:p.Arg458_Lys459insTrp