Canonical Allele Identifier: CA2410995602

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697969_50697971delinsTTC , CM000684.2:g.50697969_50697971delinsTTC	GRCh38
NC_000022.10:g.51136397_51136399delinsTTC , CM000684.1:g.51136397_51136399delinsTTC	GRCh37
NC_000022.9:g.49483263_49483265delinsTTC	NCBI36
NG_008607.2:g.28615_28617delinsTTC
NG_070230.1:g.33833_33835delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1099+254_1099+256delinsTTC	ENSP00000489147.2:n.1099+254_1099+256delinsTTC
ENST00000414786.7:n.1683+254_1683+256delinsTTC
ENST00000445220.7:c.151+254_151+256delinsTTC	ENSP00000489407.2:n.151+254_151+256delinsTTC
ENST00000673971.2:c.1456+254_1456+256delinsTTC	ENSP00000501192.1:n.1456+254_1456+256delinsTTC
ENST00000445220.6:c.151+254_151+256delinsTTC	ENSP00000489407.2:n.151+254_151+256delinsTTC
ENST00000262795.6:c.1099+254_1099+256delinsTTC	ENSP00000489147.2:n.1099+254_1099+256delinsTTC
ENST00000673971.1:c.1456+254_1456+256delinsTTC	ENSP00000501192.1:n.1456+254_1456+256delinsTTC
ENST00000673995.1:c.153-175_153-173delinsTTC
ENST00000262795.5:c.1495+254_1495+256delinsTTC	ENSP00000489147.1:n.1495+254_1495+256delinsTTC
ENST00000414786.6:n.1683+254_1683+256delinsTTC
ENST00000445220.5:c.1477+254_1477+256delinsTTC	ENSP00000489407.1:n.1477+254_1477+256delinsTTC