Canonical Allele Identifier: CA2577768682

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721042_50721044dup , CM000684.2:g.50721042_50721044dup	GRCh38
NC_000022.10:g.51159470_51159472dup , CM000684.1:g.51159470_51159472dup	GRCh37
NC_000022.9:g.49506336_49506338dup	NCBI36
NG_008607.2:g.51688_51690dup
NG_070230.1:g.56826_56828dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2810_2812dup	ENSP00000489147.2:p.Leu937_Pro938insLeu
ENST00000414786.7:n.3394_3396dup
ENST00000445220.7:c.1862_1864dup	ENSP00000489407.2:p.Leu621_Pro622insLeu
ENST00000664402.2:c.1352_1354dup	ENSP00000499475.1:p.Leu451_Pro452insLeu
ENST00000673971.2:c.*1808_*1810dup	ENSP00000501192.1:n.*1808_*1810dup
ENST00000445220.6:c.1862_1864dup	ENSP00000489407.2:p.Leu621_Pro622insLeu
ENST00000262795.6:c.2810_2812dup	ENSP00000489147.2:p.Leu937_Pro938insLeu
ENST00000664402.1:c.1352_1354dup	ENSP00000499475.1:p.Leu451_Pro452insLeu
ENST00000673971.1:c.*1808_*1810dup	ENSP00000501192.1:n.*1808_*1810dup
ENST00000262795.5:c.3206_3208dup	ENSP00000489147.1:p.Leu1069_Pro1070insLeu
ENST00000414786.6:n.3394_3396dup
ENST00000445220.5:c.3188_3190dup	ENSP00000489407.1:p.Leu1063_Pro1064insLeu