Canonical Allele Identifier: CA2411008194

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721368A= , CM000684.2:g.50721368A=	GRCh38
NC_000022.10:g.51159796A= , CM000684.1:g.51159796A=	GRCh37
NC_000022.9:g.49506662A=	NCBI36
NG_008607.2:g.52014A=
NG_070230.1:g.57152A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3136A=	ENSP00000489147.2:p.Lys1046=
ENST00000414786.7:n.3720A=
ENST00000445220.7:c.2188A=	ENSP00000489407.2:p.Lys730=
ENST00000664402.2:c.1678A=	ENSP00000499475.1:p.Lys560=
ENST00000673971.2:c.*2134A=	ENSP00000501192.1:n.*2134A=
ENST00000445220.6:c.2188A=	ENSP00000489407.2:p.Lys730=
ENST00000262795.6:c.3136A=	ENSP00000489147.2:p.Lys1046=
ENST00000664402.1:c.1678A=	ENSP00000499475.1:p.Lys560=
ENST00000673971.1:c.*2134A=	ENSP00000501192.1:n.*2134A=
ENST00000262795.5:c.3532A=	ENSP00000489147.1:p.Lys1178=
ENST00000414786.6:n.3720A=
ENST00000445220.5:c.3514A=	ENSP00000489407.1:p.Lys1172=