Canonical Allele Identifier: CA2657583374

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720648-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720650del , CM000684.2:g.50720650del	GRCh38
NC_000022.10:g.51159078del , CM000684.1:g.51159078del	GRCh37
NC_000022.9:g.49505944del	NCBI36
NG_008607.2:g.51296del
NG_070230.1:g.56434del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2418del	ENSP00000489147.2:p.Ser807AlafsTer16
ENST00000414786.7:n.3002del
ENST00000445220.7:c.1470del	ENSP00000489407.2:p.Ser491AlafsTer16
ENST00000664402.2:c.960del	ENSP00000499475.1:p.Ser321AlafsTer16
ENST00000673971.2:c.*1416del	ENSP00000501192.1:n.*1416del
ENST00000445220.6:c.1470del	ENSP00000489407.2:p.Ser491AlafsTer16
ENST00000262795.6:c.2418del	ENSP00000489147.2:p.Ser807AlafsTer16
ENST00000664402.1:c.960del	ENSP00000499475.1:p.Ser321AlafsTer16
ENST00000673971.1:c.*1416del	ENSP00000501192.1:n.*1416del
ENST00000262795.5:c.2814del	ENSP00000489147.1:p.Ser939AlafsTer16
ENST00000414786.6:n.3002del
ENST00000445220.5:c.2796del	ENSP00000489407.1:p.Ser933AlafsTer16