Canonical Allele Identifier: CA2411008220

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721404A= , CM000684.2:g.50721404A=	GRCh38
NC_000022.10:g.51159832A= , CM000684.1:g.51159832A=	GRCh37
NC_000022.9:g.49506698A=	NCBI36
NG_008607.2:g.52050A=
NG_070230.1:g.57188A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3172A=	ENSP00000489147.2:p.Lys1058=
ENST00000414786.7:n.3756A=
ENST00000445220.7:c.2224A=	ENSP00000489407.2:p.Lys742=
ENST00000664402.2:c.1714A=	ENSP00000499475.1:p.Lys572=
ENST00000673971.2:c.*2170A=	ENSP00000501192.1:n.*2170A=
ENST00000445220.6:c.2224A=	ENSP00000489407.2:p.Lys742=
ENST00000262795.6:c.3172A=	ENSP00000489147.2:p.Lys1058=
ENST00000664402.1:c.1714A=	ENSP00000499475.1:p.Lys572=
ENST00000673971.1:c.*2170A=	ENSP00000501192.1:n.*2170A=
ENST00000262795.5:c.3568A=	ENSP00000489147.1:p.Lys1190=
ENST00000414786.6:n.3756A=
ENST00000445220.5:c.3550A=	ENSP00000489407.1:p.Lys1184=