Canonical Allele Identifier: CA2410995384

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697629_50697630delinsTC , CM000684.2:g.50697629_50697630delinsTC	GRCh38
NC_000022.10:g.51136057_51136058delinsTC , CM000684.1:g.51136057_51136058delinsTC	GRCh37
NC_000022.9:g.49482923_49482924delinsTC	NCBI36
NG_008607.2:g.28275_28276delinsTC
NG_070230.1:g.33494_33495delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1013_1014delinsTC	ENSP00000489147.2:p.Val338=
ENST00000414786.7:n.1597_1598delinsTC
ENST00000445220.7:c.65_66delinsTC	ENSP00000489407.2:p.Val22=
ENST00000673971.2:c.1370_1371delinsTC	ENSP00000501192.1:p.Val457=
ENST00000445220.6:c.65_66delinsTC	ENSP00000489407.2:p.Val22=
ENST00000262795.6:c.1013_1014delinsTC	ENSP00000489147.2:p.Val338=
ENST00000673971.1:c.1370_1371delinsTC	ENSP00000501192.1:p.Val457=
ENST00000673995.1:c.66_67delinsTC
ENST00000262795.5:c.1409_1410delinsTC	ENSP00000489147.1:p.Val470=
ENST00000414786.6:n.1597_1598delinsTC
ENST00000445220.5:c.1391_1392delinsTC	ENSP00000489407.1:p.Val464=