Canonical Allele Identifier: CA2410995313

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697542_50697543delinsGT , CM000684.2:g.50697542_50697543delinsGT	GRCh38
NC_000022.10:g.51135970_51135971delinsGT , CM000684.1:g.51135970_51135971delinsGT	GRCh37
NC_000022.9:g.49482836_49482837delinsGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-22_948-21delinsGT	ENSP00000489147.2:n.948-22_948-21delinsGT
ENST00000414786.7:n.1532-22_1532-21delinsGT
ENST00000673971.2:c.1305-22_1305-21delinsGT	ENSP00000501192.1:n.1305-22_1305-21delinsGT
ENST00000262795.6:c.948-22_948-21delinsGT	ENSP00000489147.2:n.948-22_948-21delinsGT
ENST00000673971.1:c.1305-22_1305-21delinsGT	ENSP00000501192.1:n.1305-22_1305-21delinsGT
ENST00000262795.5:c.1345-23_1345-22delinsGT	ENSP00000489147.1:n.1345-23_1345-22delinsGT
ENST00000414786.6:n.1532-22_1532-21delinsGT
ENST00000445220.5:c.1326-22_1326-21delinsGT	ENSP00000489407.1:n.1326-22_1326-21delinsGT