Canonical Allele Identifier: CA2411007910

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720919_50720920delinsTC , CM000684.2:g.50720919_50720920delinsTC	GRCh38
NC_000022.10:g.51159347_51159348delinsTC , CM000684.1:g.51159347_51159348delinsTC	GRCh37
NC_000022.9:g.49506213_49506214delinsTC	NCBI36
NG_008607.2:g.51565_51566delinsTC
NG_070230.1:g.56703_56704delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2687_2688delinsTC	ENSP00000489147.2:p.Phe896=
ENST00000414786.7:n.3271_3272delinsTC
ENST00000445220.7:c.1739_1740delinsTC	ENSP00000489407.2:p.Phe580=
ENST00000664402.2:c.1229_1230delinsTC	ENSP00000499475.1:p.Phe410=
ENST00000673971.2:c.*1685_*1686delinsTC	ENSP00000501192.1:n.*1685_*1686delinsTC
ENST00000445220.6:c.1739_1740delinsTC	ENSP00000489407.2:p.Phe580=
ENST00000262795.6:c.2687_2688delinsTC	ENSP00000489147.2:p.Phe896=
ENST00000664402.1:c.1229_1230delinsTC	ENSP00000499475.1:p.Phe410=
ENST00000673971.1:c.*1685_*1686delinsTC	ENSP00000501192.1:n.*1685_*1686delinsTC
ENST00000262795.5:c.3083_3084delinsTC	ENSP00000489147.1:p.Phe1028=
ENST00000414786.6:n.3271_3272delinsTC
ENST00000445220.5:c.3065_3066delinsTC	ENSP00000489407.1:p.Phe1022=