Canonical Allele Identifier: CA2410995296

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697534_50697538delinsCAGGA , CM000684.2:g.50697534_50697538delinsCAGGA	GRCh38
NC_000022.10:g.51135962_51135966delinsCAGGA , CM000684.1:g.51135962_51135966delinsCAGGA	GRCh37
NC_000022.9:g.49482828_49482832delinsCAGGA	NCBI36
NG_008607.2:g.27893_27897delinsCAGGA
NG_070230.1:g.33112_33116delinsCAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-30_948-26delinsCAGGA	ENSP00000489147.2:n.948-30_948-26delinsCAGGA
ENST00000414786.7:n.1532-30_1532-26delinsCAGGA
ENST00000673971.2:c.1305-30_1305-26delinsCAGGA	ENSP00000501192.1:n.1305-30_1305-26delinsCAGGA
ENST00000262795.6:c.948-30_948-26delinsCAGGA	ENSP00000489147.2:n.948-30_948-26delinsCAGGA
ENST00000673971.1:c.1305-30_1305-26delinsCAGGA	ENSP00000501192.1:n.1305-30_1305-26delinsCAGGA
ENST00000262795.5:c.1345-31_1345-27delinsCAGGA	ENSP00000489147.1:n.1345-31_1345-27delinsCAGGA
ENST00000414786.6:n.1532-30_1532-26delinsCAGGA
ENST00000445220.5:c.1326-30_1326-26delinsCAGGA	ENSP00000489407.1:n.1326-30_1326-26delinsCAGGA