Canonical Allele Identifier: CA2657583041

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720361-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720361_50720362insT , CM000684.2:g.50720361_50720362insT	GRCh38
NC_000022.10:g.51158789_51158790insT , CM000684.1:g.51158789_51158790insT	GRCh37
NC_000022.9:g.49505655_49505656insT	NCBI36
NG_008607.2:g.51007_51008insT
NG_070230.1:g.56145_56146insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2129_2130insT	ENSP00000489147.2:p.Pro711AlafsTer?
ENST00000414786.7:n.2713_2714insT
ENST00000445220.7:c.1181_1182insT	ENSP00000489407.2:p.Pro395AlafsTer?
ENST00000664402.2:c.671_672insT	ENSP00000499475.1:p.Pro225AlafsTer?
ENST00000673971.2:c.*1127_*1128insT	ENSP00000501192.1:n.*1127_*1128insT
ENST00000445220.6:c.1181_1182insT	ENSP00000489407.2:p.Pro395AlafsTer?
ENST00000262795.6:c.2129_2130insT	ENSP00000489147.2:p.Pro711AlafsTer?
ENST00000664402.1:c.671_672insT	ENSP00000499475.1:p.Pro225AlafsTer?
ENST00000673971.1:c.*1127_*1128insT	ENSP00000501192.1:n.*1127_*1128insT
ENST00000262795.5:c.2525_2526insT	ENSP00000489147.1:p.Pro843AlafsTer?
ENST00000414786.6:n.2713_2714insT
ENST00000445220.5:c.2507_2508insT	ENSP00000489407.1:p.Pro837AlafsTer?