Canonical Allele Identifier: CA2411007723

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720621C= , CM000684.2:g.50720621C=	GRCh38
NC_000022.10:g.51159049C= , CM000684.1:g.51159049C=	GRCh37
NC_000022.9:g.49505915C=	NCBI36
NG_008607.2:g.51267C=
NG_070230.1:g.56405C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2389C=	ENSP00000489147.2:p.Pro797=
ENST00000414786.7:n.2973C=
ENST00000445220.7:c.1441C=	ENSP00000489407.2:p.Pro481=
ENST00000664402.2:c.931C=	ENSP00000499475.1:p.Pro311=
ENST00000673971.2:c.*1387C=	ENSP00000501192.1:n.*1387C=
ENST00000445220.6:c.1441C=	ENSP00000489407.2:p.Pro481=
ENST00000262795.6:c.2389C=	ENSP00000489147.2:p.Pro797=
ENST00000664402.1:c.931C=	ENSP00000499475.1:p.Pro311=
ENST00000673971.1:c.*1387C=	ENSP00000501192.1:n.*1387C=
ENST00000262795.5:c.2785C=	ENSP00000489147.1:p.Pro929=
ENST00000414786.6:n.2973C=
ENST00000445220.5:c.2767C=	ENSP00000489407.1:p.Pro923=