Canonical Allele Identifier: CA2841608994

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721951_50721952del , CM000684.2:g.50721951_50721952del	GRCh38
NC_000022.10:g.51160379_51160380del , CM000684.1:g.51160379_51160380del	GRCh37
NC_000022.9:g.49507245_49507246del	NCBI36
NG_008607.2:g.52597_52598del
NG_070230.1:g.57735_57736del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3719_3720del	ENSP00000489147.2:p.Thr1240LysfsTer21
ENST00000414786.7:n.4303_4304del
ENST00000445220.7:c.2771_2772del	ENSP00000489407.2:p.Thr924LysfsTer21
ENST00000664402.2:c.2261_2262del	ENSP00000499475.1:p.Thr754LysfsTer21
ENST00000673971.2:c.*2717_*2718del	ENSP00000501192.1:n.*2717_*2718del
ENST00000445220.6:c.2771_2772del	ENSP00000489407.2:p.Thr924LysfsTer21
ENST00000262795.6:c.3719_3720del	ENSP00000489147.2:p.Thr1240LysfsTer21
ENST00000664402.1:c.2261_2262del	ENSP00000499475.1:p.Thr754LysfsTer21
ENST00000673971.1:c.*2717_*2718del	ENSP00000501192.1:n.*2717_*2718del
ENST00000262795.5:c.4115_4116del	ENSP00000489147.1:p.Thr1372LysfsTer21
ENST00000414786.6:n.4303_4304del
ENST00000445220.5:c.4097_4098del	ENSP00000489407.1:p.Thr1366LysfsTer21