Canonical Allele Identifier: CA891842415

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721847_50721848del , CM000684.2:g.50721847_50721848del	GRCh38
NC_000022.10:g.51160275_51160276del , CM000684.1:g.51160275_51160276del	GRCh37
NC_000022.9:g.49507141_49507142del	NCBI36
NG_008607.2:g.52493_52494del
NG_070230.1:g.57631_57632del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3615_3616del	ENSP00000489147.2:p.Gly1206GlufsTer5
ENST00000414786.7:n.4199_4200del
ENST00000445220.7:c.2667_2668del	ENSP00000489407.2:p.Gly890GlufsTer5
ENST00000664402.2:c.2157_2158del	ENSP00000499475.1:p.Gly720GlufsTer5
ENST00000673971.2:c.*2613_*2614del	ENSP00000501192.1:n.*2613_*2614del
ENST00000445220.6:c.2667_2668del	ENSP00000489407.2:p.Gly890GlufsTer5
ENST00000262795.6:c.3615_3616del	ENSP00000489147.2:p.Gly1206GlufsTer5
ENST00000664402.1:c.2157_2158del	ENSP00000499475.1:p.Gly720GlufsTer5
ENST00000673971.1:c.*2613_*2614del	ENSP00000501192.1:n.*2613_*2614del
ENST00000262795.5:c.4011_4012del	ENSP00000489147.1:p.Gly1338GlufsTer5
ENST00000414786.6:n.4199_4200del
ENST00000445220.5:c.3993_3994del	ENSP00000489407.1:p.Gly1332GlufsTer5