Canonical Allele Identifier: CA2410995514

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697828_50697831delinsGGCC , CM000684.2:g.50697828_50697831delinsGGCC	GRCh38
NC_000022.10:g.51136256_51136259delinsGGCC , CM000684.1:g.51136256_51136259delinsGGCC	GRCh37
NC_000022.9:g.49483122_49483125delinsGGCC	NCBI36
NG_008607.2:g.28474_28477delinsGGCC
NG_070230.1:g.33692_33695delinsGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1099+113_1099+116delinsGGCC	ENSP00000489147.2:n.1099+113_1099+116delinsGGCC
ENST00000414786.7:n.1683+113_1683+116delinsGGCC
ENST00000445220.7:c.151+113_151+116delinsGGCC	ENSP00000489407.2:n.151+113_151+116delinsGGCC
ENST00000673971.2:c.1456+113_1456+116delinsGGCC	ENSP00000501192.1:n.1456+113_1456+116delinsGGCC
ENST00000445220.6:c.151+113_151+116delinsGGCC	ENSP00000489407.2:n.151+113_151+116delinsGGCC
ENST00000262795.6:c.1099+113_1099+116delinsGGCC	ENSP00000489147.2:n.1099+113_1099+116delinsGGCC
ENST00000673971.1:c.1456+113_1456+116delinsGGCC	ENSP00000501192.1:n.1456+113_1456+116delinsGGCC
ENST00000673995.1:c.152+113_152+116delinsGGCC
ENST00000262795.5:c.1495+113_1495+116delinsGGCC	ENSP00000489147.1:n.1495+113_1495+116delinsGGCC
ENST00000414786.6:n.1683+113_1683+116delinsGGCC
ENST00000445220.5:c.1477+113_1477+116delinsGGCC	ENSP00000489407.1:n.1477+113_1477+116delinsGGCC