Canonical Allele Identifier: CA2819325416

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697504_50697506del , CM000684.2:g.50697504_50697506del	GRCh38
NC_000022.10:g.51135932_51135934del , CM000684.1:g.51135932_51135934del	GRCh37
NC_000022.9:g.49482798_49482800del	NCBI36
NG_008607.2:g.27863_27865del
NG_070230.1:g.33082_33084del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-60_948-58del	ENSP00000489147.2:n.948-60_948-58del
ENST00000414786.7:n.1532-60_1532-58del
ENST00000673971.2:c.1305-60_1305-58del	ENSP00000501192.1:n.1305-60_1305-58del
ENST00000262795.6:c.948-60_948-58del	ENSP00000489147.2:n.948-60_948-58del
ENST00000673971.1:c.1305-60_1305-58del	ENSP00000501192.1:n.1305-60_1305-58del
ENST00000262795.5:c.1345-61_1345-59del	ENSP00000489147.1:n.1345-61_1345-59del
ENST00000414786.6:n.1532-60_1532-58del
ENST00000445220.5:c.1326-60_1326-58del	ENSP00000489407.1:n.1326-60_1326-58del