Canonical Allele Identifier: CA2657581052

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721545-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721549del , CM000684.2:g.50721549del	GRCh38
NC_000022.10:g.51159977del , CM000684.1:g.51159977del	GRCh37
NC_000022.9:g.49506843del	NCBI36
NG_008607.2:g.52195del
NG_070230.1:g.57333del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3317del	ENSP00000489147.2:p.Pro1106ArgfsTer?
ENST00000414786.7:n.3901del
ENST00000445220.7:c.2369del	ENSP00000489407.2:p.Pro790ArgfsTer?
ENST00000664402.2:c.1859del	ENSP00000499475.1:p.Pro620ArgfsTer?
ENST00000673971.2:c.*2315del	ENSP00000501192.1:n.*2315del
ENST00000445220.6:c.2369del	ENSP00000489407.2:p.Pro790ArgfsTer?
ENST00000262795.6:c.3317del	ENSP00000489147.2:p.Pro1106ArgfsTer?
ENST00000664402.1:c.1859del	ENSP00000499475.1:p.Pro620ArgfsTer?
ENST00000673971.1:c.*2315del	ENSP00000501192.1:n.*2315del
ENST00000262795.5:c.3713del	ENSP00000489147.1:p.Pro1238ArgfsTer?
ENST00000414786.6:n.3901del
ENST00000445220.5:c.3695del	ENSP00000489407.1:p.Pro1232ArgfsTer?