Canonical Allele Identifier: CA2411008320

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721551G= , CM000684.2:g.50721551G=	GRCh38
NC_000022.10:g.51159979G= , CM000684.1:g.51159979G=	GRCh37
NC_000022.9:g.49506845G=	NCBI36
NG_008607.2:g.52197G=
NG_070230.1:g.57335G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3319G=	ENSP00000489147.2:p.Ala1107=
ENST00000414786.7:n.3903G=
ENST00000445220.7:c.2371G=	ENSP00000489407.2:p.Ala791=
ENST00000664402.2:c.1861G=	ENSP00000499475.1:p.Ala621=
ENST00000673971.2:c.*2317G=	ENSP00000501192.1:n.*2317G=
ENST00000445220.6:c.2371G=	ENSP00000489407.2:p.Ala791=
ENST00000262795.6:c.3319G=	ENSP00000489147.2:p.Ala1107=
ENST00000664402.1:c.1861G=	ENSP00000499475.1:p.Ala621=
ENST00000673971.1:c.*2317G=	ENSP00000501192.1:n.*2317G=
ENST00000262795.5:c.3715G=	ENSP00000489147.1:p.Ala1239=
ENST00000414786.6:n.3903G=
ENST00000445220.5:c.3697G=	ENSP00000489407.1:p.Ala1233=