Canonical Allele Identifier: CA2411008339

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721585_50721598delinsTGCCCAGCCCCCGG , CM000684.2:g.50721585_50721598delinsTGCCCAGCCCCCGG	GRCh38
NC_000022.10:g.51160013_51160026delinsTGCCCAGCCCCCGG , CM000684.1:g.51160013_51160026delinsTGCCCAGCCCCCGG	GRCh37
NC_000022.9:g.49506879_49506892delinsTGCCCAGCCCCCGG	NCBI36
NG_008607.2:g.52231_52244delinsTGCCCAGCCCCCGG
NG_070230.1:g.57369_57382delinsTGCCCAGCCCCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3353_3366delinsTGCCCAGCCCCCGG	ENSP00000489147.2:p.Leu1118=
ENST00000414786.7:n.3937_3950delinsTGCCCAGCCCCCGG
ENST00000445220.7:c.2405_2418delinsTGCCCAGCCCCCGG	ENSP00000489407.2:p.Leu802=
ENST00000664402.2:c.1895_1908delinsTGCCCAGCCCCCGG	ENSP00000499475.1:p.Leu632=
ENST00000673971.2:c.*2351_*2364delinsTGCCCAGCCCCCGG	ENSP00000501192.1:n.*2351_*2364delinsTGCCCAGCCCCCGG
ENST00000445220.6:c.2405_2418delinsTGCCCAGCCCCCGG	ENSP00000489407.2:p.Leu802=
ENST00000262795.6:c.3353_3366delinsTGCCCAGCCCCCGG	ENSP00000489147.2:p.Leu1118=
ENST00000664402.1:c.1895_1908delinsTGCCCAGCCCCCGG	ENSP00000499475.1:p.Leu632=
ENST00000673971.1:c.*2351_*2364delinsTGCCCAGCCCCCGG	ENSP00000501192.1:n.*2351_*2364delinsTGCCCAGCCCCCGG
ENST00000262795.5:c.3749_3762delinsTGCCCAGCCCCCGG	ENSP00000489147.1:p.Leu1250=
ENST00000414786.6:n.3937_3950delinsTGCCCAGCCCCCGG
ENST00000445220.5:c.3731_3744delinsTGCCCAGCCCCCGG	ENSP00000489407.1:p.Leu1244=