Canonical Allele Identifier: CA2411008662

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722180_50722195delinsCGCCTCTGCCGGGCTG , CM000684.2:g.50722180_50722195delinsCGCCTCTGCCGGGCTG	GRCh38
NC_000022.10:g.51160608_51160623delinsCGCCTCTGCCGGGCTG , CM000684.1:g.51160608_51160623delinsCGCCTCTGCCGGGCTG	GRCh37
NC_000022.9:g.49507474_49507489delinsCGCCTCTGCCGGGCTG	NCBI36
NG_008607.2:g.52826_52841delinsCGCCTCTGCCGGGCTG
NG_070230.1:g.57964_57979delinsCGCCTCTGCCGGGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3948_3963delinsCGCCTCTGCCGGGCTG	ENSP00000489147.2:p.Ala1316=
ENST00000414786.7:n.4532_4547delinsCGCCTCTGCCGGGCTG
ENST00000445220.7:c.3000_3015delinsCGCCTCTGCCGGGCTG	ENSP00000489407.2:p.Ala1000=
ENST00000664402.2:c.2490_2505delinsCGCCTCTGCCGGGCTG	ENSP00000499475.1:p.Ala830=
ENST00000673971.2:c.*2946_*2961delinsCGCCTCTGCCGGGCTG	ENSP00000501192.1:n.*2946_*2961delinsCGCCTCTGCCGGGCTG
ENST00000445220.6:c.3000_3015delinsCGCCTCTGCCGGGCTG	ENSP00000489407.2:p.Ala1000=
ENST00000262795.6:c.3948_3963delinsCGCCTCTGCCGGGCTG	ENSP00000489147.2:p.Ala1316=
ENST00000664402.1:c.2490_2505delinsCGCCTCTGCCGGGCTG	ENSP00000499475.1:p.Ala830=
ENST00000673971.1:c.*2946_*2961delinsCGCCTCTGCCGGGCTG	ENSP00000501192.1:n.*2946_*2961delinsCGCCTCTGCCGGGCTG
ENST00000262795.5:c.4344_4359delinsCGCCTCTGCCGGGCTG	ENSP00000489147.1:p.Ala1448=
ENST00000414786.6:n.4532_4547delinsCGCCTCTGCCGGGCTG
ENST00000445220.5:c.4326_4341delinsCGCCTCTGCCGGGCTG	ENSP00000489407.1:p.Ala1442=