Canonical Allele Identifier: CA2657583040

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720361-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720362del , CM000684.2:g.50720362del	GRCh38
NC_000022.10:g.51158790del , CM000684.1:g.51158790del	GRCh37
NC_000022.9:g.49505656del	NCBI36
NG_008607.2:g.51008del
NG_070230.1:g.56146del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2130del	ENSP00000489147.2:p.Pro711ArgfsTer?
ENST00000414786.7:n.2714del
ENST00000445220.7:c.1182del	ENSP00000489407.2:p.Pro395ArgfsTer?
ENST00000664402.2:c.672del	ENSP00000499475.1:p.Pro225ArgfsTer?
ENST00000673971.2:c.*1128del	ENSP00000501192.1:n.*1128del
ENST00000445220.6:c.1182del	ENSP00000489407.2:p.Pro395ArgfsTer?
ENST00000262795.6:c.2130del	ENSP00000489147.2:p.Pro711ArgfsTer?
ENST00000664402.1:c.672del	ENSP00000499475.1:p.Pro225ArgfsTer?
ENST00000673971.1:c.*1128del	ENSP00000501192.1:n.*1128del
ENST00000262795.5:c.2526del	ENSP00000489147.1:p.Pro843ArgfsTer?
ENST00000414786.6:n.2714del
ENST00000445220.5:c.2508del	ENSP00000489407.1:p.Pro837ArgfsTer?