Canonical Allele Identifier: CA2411007727

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720626C= , CM000684.2:g.50720626C=	GRCh38
NC_000022.10:g.51159054C= , CM000684.1:g.51159054C=	GRCh37
NC_000022.9:g.49505920C=	NCBI36
NG_008607.2:g.51272C=
NG_070230.1:g.56410C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2394C=	ENSP00000489147.2:p.Tyr798=
ENST00000414786.7:n.2978C=
ENST00000445220.7:c.1446C=	ENSP00000489407.2:p.Tyr482=
ENST00000664402.2:c.936C=	ENSP00000499475.1:p.Tyr312=
ENST00000673971.2:c.*1392C=	ENSP00000501192.1:n.*1392C=
ENST00000445220.6:c.1446C=	ENSP00000489407.2:p.Tyr482=
ENST00000262795.6:c.2394C=	ENSP00000489147.2:p.Tyr798=
ENST00000664402.1:c.936C=	ENSP00000499475.1:p.Tyr312=
ENST00000673971.1:c.*1392C=	ENSP00000501192.1:n.*1392C=
ENST00000262795.5:c.2790C=	ENSP00000489147.1:p.Tyr930=
ENST00000414786.6:n.2978C=
ENST00000445220.5:c.2772C=	ENSP00000489407.1:p.Tyr924=