Canonical Allele Identifier: CA2987165381

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721286_50721288del , CM000684.2:g.50721286_50721288del	GRCh38
NC_000022.10:g.51159714_51159716del , CM000684.1:g.51159714_51159716del	GRCh37
NC_000022.9:g.49506580_49506582del	NCBI36
NG_008607.2:g.51932_51934del
NG_070230.1:g.57070_57072del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3054_3056del	ENSP00000489147.2:p.Glu1019del
ENST00000414786.7:n.3638_3640del
ENST00000445220.7:c.2106_2108del	ENSP00000489407.2:p.Glu703del
ENST00000664402.2:c.1596_1598del	ENSP00000499475.1:p.Glu533del
ENST00000673971.2:c.*2052_*2054del	ENSP00000501192.1:n.*2052_*2054del
ENST00000445220.6:c.2106_2108del	ENSP00000489407.2:p.Glu703del
ENST00000262795.6:c.3054_3056del	ENSP00000489147.2:p.Glu1019del
ENST00000664402.1:c.1596_1598del	ENSP00000499475.1:p.Glu533del
ENST00000673971.1:c.*2052_*2054del	ENSP00000501192.1:n.*2052_*2054del
ENST00000262795.5:c.3450_3452del	ENSP00000489147.1:p.Glu1151del
ENST00000414786.6:n.3638_3640del
ENST00000445220.5:c.3432_3434del	ENSP00000489407.1:p.Glu1145del