Canonical Allele Identifier: CA2410995289

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697529_50697530delinsGC , CM000684.2:g.50697529_50697530delinsGC	GRCh38
NC_000022.10:g.51135957_51135958delinsGC , CM000684.1:g.51135957_51135958delinsGC	GRCh37
NC_000022.9:g.49482823_49482824delinsGC	NCBI36
NG_008607.2:g.27888_27889delinsGC
NG_070230.1:g.33107_33108delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-35_948-34delinsGC	ENSP00000489147.2:n.948-35_948-34delinsGC
ENST00000414786.7:n.1532-35_1532-34delinsGC
ENST00000673971.2:c.1305-35_1305-34delinsGC	ENSP00000501192.1:n.1305-35_1305-34delinsGC
ENST00000262795.6:c.948-35_948-34delinsGC	ENSP00000489147.2:n.948-35_948-34delinsGC
ENST00000673971.1:c.1305-35_1305-34delinsGC	ENSP00000501192.1:n.1305-35_1305-34delinsGC
ENST00000262795.5:c.1345-36_1345-35delinsGC	ENSP00000489147.1:n.1345-36_1345-35delinsGC
ENST00000414786.6:n.1532-35_1532-34delinsGC
ENST00000445220.5:c.1326-35_1326-34delinsGC	ENSP00000489407.1:n.1326-35_1326-34delinsGC