Canonical Allele Identifier: CA2657597104

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697312-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697312T>G , CM000684.2:g.50697312T>G	GRCh38
NC_000022.10:g.51135740T>G , CM000684.1:g.51135740T>G	GRCh37
NC_000022.9:g.49482606T>G	NCBI36
NG_008607.2:g.27671T>G
NG_070230.1:g.32890T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-252T>G	ENSP00000489147.2:n.948-252T>G
ENST00000414786.7:n.1532-252T>G
ENST00000673971.2:c.1305-252T>G	ENSP00000501192.1:n.1305-252T>G
ENST00000262795.6:c.948-252T>G	ENSP00000489147.2:n.948-252T>G
ENST00000673971.1:c.1305-252T>G	ENSP00000501192.1:n.1305-252T>G
ENST00000262795.5:c.1344+45T>G	ENSP00000489147.1:n.1344+45T>G
ENST00000414786.6:n.1532-252T>G
ENST00000445220.5:c.1326-252T>G	ENSP00000489407.1:n.1326-252T>G