Canonical Allele Identifier: CA2577768309

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697567_50697568insT , CM000684.2:g.50697567_50697568insT	GRCh38
NC_000022.10:g.51135995_51135996insT , CM000684.1:g.51135995_51135996insT	GRCh37
NC_000022.9:g.49482861_49482862insT	NCBI36
NG_008607.2:g.28213_28214insT
NG_070230.1:g.33432_33433insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.951_952insT	ENSP00000489147.2:p.Ala318CysfsTer?
ENST00000414786.7:n.1535_1536insT
ENST00000445220.7:c.3_4insT	ENSP00000489407.2:p.Ala2CysfsTer?
ENST00000673971.2:c.1308_1309insT	ENSP00000501192.1:p.Ala437CysfsTer?
ENST00000445220.6:c.3_4insT	ENSP00000489407.2:p.Ala2CysfsTer?
ENST00000262795.6:c.951_952insT	ENSP00000489147.2:p.Ala318CysfsTer?
ENST00000673971.1:c.1308_1309insT	ENSP00000501192.1:p.Ala437CysfsTer?
ENST00000673995.1:c.4_5insT
ENST00000262795.5:c.1347_1348insT	ENSP00000489147.1:p.Ala450CysfsTer?
ENST00000414786.6:n.1535_1536insT
ENST00000445220.5:c.1329_1330insT	ENSP00000489407.1:p.Ala444CysfsTer?