Canonical Allele Identifier: CA2411008440

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721765_50721767delinsAAG , CM000684.2:g.50721765_50721767delinsAAG	GRCh38
NC_000022.10:g.51160193_51160195delinsAAG , CM000684.1:g.51160193_51160195delinsAAG	GRCh37
NC_000022.9:g.49507059_49507061delinsAAG	NCBI36
NG_008607.2:g.52411_52413delinsAAG
NG_070230.1:g.57549_57551delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3533_3535delinsAAG	ENSP00000489147.2:p.Glu1178=
ENST00000414786.7:n.4117_4119delinsAAG
ENST00000445220.7:c.2585_2587delinsAAG	ENSP00000489407.2:p.Glu862=
ENST00000664402.2:c.2075_2077delinsAAG	ENSP00000499475.1:p.Glu692=
ENST00000673971.2:c.*2531_*2533delinsAAG	ENSP00000501192.1:n.*2531_*2533delinsAAG
ENST00000445220.6:c.2585_2587delinsAAG	ENSP00000489407.2:p.Glu862=
ENST00000262795.6:c.3533_3535delinsAAG	ENSP00000489147.2:p.Glu1178=
ENST00000664402.1:c.2075_2077delinsAAG	ENSP00000499475.1:p.Glu692=
ENST00000673971.1:c.*2531_*2533delinsAAG	ENSP00000501192.1:n.*2531_*2533delinsAAG
ENST00000262795.5:c.3929_3931delinsAAG	ENSP00000489147.1:p.Glu1310=
ENST00000414786.6:n.4117_4119delinsAAG
ENST00000445220.5:c.3911_3913delinsAAG	ENSP00000489407.1:p.Glu1304=