Canonical Allele Identifier: CA2657599040

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697686-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697689del , CM000684.2:g.50697689del	GRCh38
NC_000022.10:g.51136117del , CM000684.1:g.51136117del	GRCh37
NC_000022.9:g.49482983del	NCBI36
NG_008607.2:g.28335del
NG_070230.1:g.33554del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1073del	ENSP00000489147.2:p.Pro358ArgfsTer8
ENST00000414786.7:n.1657del
ENST00000445220.7:c.125del	ENSP00000489407.2:p.Pro42ArgfsTer8
ENST00000673971.2:c.1430del	ENSP00000501192.1:p.Pro477ArgfsTer8
ENST00000445220.6:c.125del	ENSP00000489407.2:p.Pro42ArgfsTer8
ENST00000262795.6:c.1073del	ENSP00000489147.2:p.Pro358ArgfsTer8
ENST00000673971.1:c.1430del	ENSP00000501192.1:p.Pro477ArgfsTer8
ENST00000673995.1:c.126del
ENST00000262795.5:c.1469del	ENSP00000489147.1:p.Pro490ArgfsTer8
ENST00000414786.6:n.1657del
ENST00000445220.5:c.1451del	ENSP00000489407.1:p.Pro484ArgfsTer8