Canonical Allele Identifier: CA2657580871

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721432-A-ACGCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721433_50721434insGCTGC , CM000684.2:g.50721433_50721434insGCTGC	GRCh38
NC_000022.10:g.51159861_51159862insGCTGC , CM000684.1:g.51159861_51159862insGCTGC	GRCh37
NC_000022.9:g.49506727_49506728insGCTGC	NCBI36
NG_008607.2:g.52079_52080insGCTGC
NG_070230.1:g.57217_57218insGCTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3201_3202insGCTGC	ENSP00000489147.2:p.Thr1068AlafsTer?
ENST00000414786.7:n.3785_3786insGCTGC
ENST00000445220.7:c.2253_2254insGCTGC	ENSP00000489407.2:p.Thr752AlafsTer?
ENST00000664402.2:c.1743_1744insGCTGC	ENSP00000499475.1:p.Thr582AlafsTer?
ENST00000673971.2:c.*2199_*2200insGCTGC	ENSP00000501192.1:n.*2199_*2200insGCTGC
ENST00000445220.6:c.2253_2254insGCTGC	ENSP00000489407.2:p.Thr752AlafsTer?
ENST00000262795.6:c.3201_3202insGCTGC	ENSP00000489147.2:p.Thr1068AlafsTer?
ENST00000664402.1:c.1743_1744insGCTGC	ENSP00000499475.1:p.Thr582AlafsTer?
ENST00000673971.1:c.*2199_*2200insGCTGC	ENSP00000501192.1:n.*2199_*2200insGCTGC
ENST00000262795.5:c.3597_3598insGCTGC	ENSP00000489147.1:p.Thr1200AlafsTer?
ENST00000414786.6:n.3785_3786insGCTGC
ENST00000445220.5:c.3579_3580insGCTGC	ENSP00000489407.1:p.Thr1194AlafsTer?