Canonical Allele Identifier: CA2411008195

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721370G= , CM000684.2:g.50721370G=	GRCh38
NC_000022.10:g.51159798G= , CM000684.1:g.51159798G=	GRCh37
NC_000022.9:g.49506664G=	NCBI36
NG_008607.2:g.52016G=
NG_070230.1:g.57154G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3138G=	ENSP00000489147.2:p.Lys1046=
ENST00000414786.7:n.3722G=
ENST00000445220.7:c.2190G=	ENSP00000489407.2:p.Lys730=
ENST00000664402.2:c.1680G=	ENSP00000499475.1:p.Lys560=
ENST00000673971.2:c.*2136G=	ENSP00000501192.1:n.*2136G=
ENST00000445220.6:c.2190G=	ENSP00000489407.2:p.Lys730=
ENST00000262795.6:c.3138G=	ENSP00000489147.2:p.Lys1046=
ENST00000664402.1:c.1680G=	ENSP00000499475.1:p.Lys560=
ENST00000673971.1:c.*2136G=	ENSP00000501192.1:n.*2136G=
ENST00000262795.5:c.3534G=	ENSP00000489147.1:p.Lys1178=
ENST00000414786.6:n.3722G=
ENST00000445220.5:c.3516G=	ENSP00000489407.1:p.Lys1172=