Canonical Allele Identifier: CA2657599007

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697673-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697675_50697676del , CM000684.2:g.50697675_50697676del	GRCh38
NC_000022.10:g.51136103_51136104del , CM000684.1:g.51136103_51136104del	GRCh37
NC_000022.9:g.49482969_49482970del	NCBI36
NG_008607.2:g.28321_28322del
NG_070230.1:g.33540_33541del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1059_1060del	ENSP00000489147.2:p.Glu354ArgfsTer?
ENST00000414786.7:n.1643_1644del
ENST00000445220.7:c.111_112del	ENSP00000489407.2:p.Glu38ArgfsTer?
ENST00000673971.2:c.1416_1417del	ENSP00000501192.1:p.Glu473ArgfsTer?
ENST00000445220.6:c.111_112del	ENSP00000489407.2:p.Glu38ArgfsTer?
ENST00000262795.6:c.1059_1060del	ENSP00000489147.2:p.Glu354ArgfsTer?
ENST00000673971.1:c.1416_1417del	ENSP00000501192.1:p.Glu473ArgfsTer?
ENST00000673995.1:c.112_113del
ENST00000262795.5:c.1455_1456del	ENSP00000489147.1:p.Glu486ArgfsTer?
ENST00000414786.6:n.1643_1644del
ENST00000445220.5:c.1437_1438del	ENSP00000489407.1:p.Glu480ArgfsTer?