Canonical Allele Identifier: CA2657583426

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721094-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721097del , CM000684.2:g.50721097del	GRCh38
NC_000022.10:g.51159525del , CM000684.1:g.51159525del	GRCh37
NC_000022.9:g.49506391del	NCBI36
NG_008607.2:g.51743del
NG_070230.1:g.56881del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2865del	ENSP00000489147.2:p.Ser956ArgfsTer?
ENST00000414786.7:n.3449del
ENST00000445220.7:c.1917del	ENSP00000489407.2:p.Ser640ArgfsTer?
ENST00000664402.2:c.1407del	ENSP00000499475.1:p.Ser470ArgfsTer?
ENST00000673971.2:c.*1863del	ENSP00000501192.1:n.*1863del
ENST00000445220.6:c.1917del	ENSP00000489407.2:p.Ser640ArgfsTer?
ENST00000262795.6:c.2865del	ENSP00000489147.2:p.Ser956ArgfsTer?
ENST00000664402.1:c.1407del	ENSP00000499475.1:p.Ser470ArgfsTer?
ENST00000673971.1:c.*1863del	ENSP00000501192.1:n.*1863del
ENST00000262795.5:c.3261del	ENSP00000489147.1:p.Ser1088ArgfsTer?
ENST00000414786.6:n.3449del
ENST00000445220.5:c.3243del	ENSP00000489407.1:p.Ser1082ArgfsTer?