Canonical Allele Identifier: CA2411007952

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720974A= , CM000684.2:g.50720974A=	GRCh38
NC_000022.10:g.51159402A= , CM000684.1:g.51159402A=	GRCh37
NC_000022.9:g.49506268A=	NCBI36
NG_008607.2:g.51620A=
NG_070230.1:g.56758A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2742A=	ENSP00000489147.2:p.Leu914=
ENST00000414786.7:n.3326A=
ENST00000445220.7:c.1794A=	ENSP00000489407.2:p.Leu598=
ENST00000664402.2:c.1284A=	ENSP00000499475.1:p.Leu428=
ENST00000673971.2:c.*1740A=	ENSP00000501192.1:n.*1740A=
ENST00000445220.6:c.1794A=	ENSP00000489407.2:p.Leu598=
ENST00000262795.6:c.2742A=	ENSP00000489147.2:p.Leu914=
ENST00000664402.1:c.1284A=	ENSP00000499475.1:p.Leu428=
ENST00000673971.1:c.*1740A=	ENSP00000501192.1:n.*1740A=
ENST00000262795.5:c.3138A=	ENSP00000489147.1:p.Leu1046=
ENST00000414786.6:n.3326A=
ENST00000445220.5:c.3120A=	ENSP00000489407.1:p.Leu1040=