Canonical Allele Identifier: CA2410995180

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697393_50697394delinsTC , CM000684.2:g.50697393_50697394delinsTC	GRCh38
NC_000022.10:g.51135821_51135822delinsTC , CM000684.1:g.51135821_51135822delinsTC	GRCh37
NC_000022.9:g.49482687_49482688delinsTC	NCBI36
NG_008607.2:g.27752_27753delinsTC
NG_070230.1:g.32971_32972delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-171_948-170delinsTC	ENSP00000489147.2:n.948-171_948-170delinsTC
ENST00000414786.7:n.1532-171_1532-170delinsTC
ENST00000673971.2:c.1305-171_1305-170delinsTC	ENSP00000501192.1:n.1305-171_1305-170delinsTC
ENST00000262795.6:c.948-171_948-170delinsTC	ENSP00000489147.2:n.948-171_948-170delinsTC
ENST00000673971.1:c.1305-171_1305-170delinsTC	ENSP00000501192.1:n.1305-171_1305-170delinsTC
ENST00000262795.5:c.1344+126_1344+127delinsTC	ENSP00000489147.1:n.1344+126_1344+127delinsTC
ENST00000414786.6:n.1532-171_1532-170delinsTC
ENST00000445220.5:c.1326-171_1326-170delinsTC	ENSP00000489407.1:n.1326-171_1326-170delinsTC