Canonical Allele Identifier: CA2657597454

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697449-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697449C>T , CM000684.2:g.50697449C>T	GRCh38
NC_000022.10:g.51135877C>T , CM000684.1:g.51135877C>T	GRCh37
NC_000022.9:g.49482743C>T	NCBI36
NG_008607.2:g.27808C>T
NG_070230.1:g.33027C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-115C>T	ENSP00000489147.2:n.948-115C>T
ENST00000414786.7:n.1532-115C>T
ENST00000673971.2:c.1305-115C>T	ENSP00000501192.1:n.1305-115C>T
ENST00000262795.6:c.948-115C>T	ENSP00000489147.2:n.948-115C>T
ENST00000673971.1:c.1305-115C>T	ENSP00000501192.1:n.1305-115C>T
ENST00000262795.5:c.1345-116C>T	ENSP00000489147.1:n.1345-116C>T
ENST00000414786.6:n.1532-115C>T
ENST00000445220.5:c.1326-115C>T	ENSP00000489407.1:n.1326-115C>T