Canonical Allele Identifier: CA14933373

Gene: SHANK3

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50719589G>C , CM000684.2:g.50719589G>C	GRCh38
NC_000022.10:g.51158017G>C , CM000684.1:g.51158017G>C	GRCh37
NC_000022.9:g.49504883G>C	NCBI36
NG_008607.2:g.50235G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1952-595G>C	ENSP00000489147.2:n.1952-595G>C
ENST00000414786.7:n.2536-595G>C
ENST00000445220.7:c.1004-595G>C	ENSP00000489407.2:n.1004-595G>C
ENST00000664402.2:c.494-595G>C	ENSP00000499475.1:n.494-595G>C
ENST00000673971.2:c.*950-595G>C	ENSP00000501192.1:n.*950-595G>C
ENST00000445220.6:c.1004-595G>C	ENSP00000489407.2:n.1004-595G>C
ENST00000262795.6:c.1952-595G>C	ENSP00000489147.2:n.1952-595G>C
ENST00000664402.1:c.494-595G>C	ENSP00000499475.1:n.494-595G>C
ENST00000673971.1:c.*950-595G>C	ENSP00000501192.1:n.*950-595G>C
ENST00000262795.5:c.2348-595G>C	ENSP00000489147.1:n.2348-595G>C
ENST00000414786.6:n.2536-595G>C
ENST00000445220.5:c.2330-595G>C	ENSP00000489407.1:n.2330-595G>C