Canonical Allele Identifier: CA2819323175

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697469_50697473del , CM000684.2:g.50697469_50697473del	GRCh38
NC_000022.10:g.51135897_51135901del , CM000684.1:g.51135897_51135901del	GRCh37
NC_000022.9:g.49482763_49482767del	NCBI36
NG_008607.2:g.27828_27832del
NG_070230.1:g.33047_33051del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-95_948-91del	ENSP00000489147.2:n.948-95_948-91del
ENST00000414786.7:n.1532-95_1532-91del
ENST00000673971.2:c.1305-95_1305-91del	ENSP00000501192.1:n.1305-95_1305-91del
ENST00000262795.6:c.948-95_948-91del	ENSP00000489147.2:n.948-95_948-91del
ENST00000673971.1:c.1305-95_1305-91del	ENSP00000501192.1:n.1305-95_1305-91del
ENST00000262795.5:c.1345-96_1345-92del	ENSP00000489147.1:n.1345-96_1345-92del
ENST00000414786.6:n.1532-95_1532-91del
ENST00000445220.5:c.1326-95_1326-91del	ENSP00000489407.1:n.1326-95_1326-91del