Canonical Allele Identifier: CA2592022348

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697726-C-T
• gnomAD v4: 22-50697726-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697726C>T , CM000684.2:g.50697726C>T	GRCh38
NC_000022.10:g.51136154C>T , CM000684.1:g.51136154C>T	GRCh37
NC_000022.9:g.49483020C>T	NCBI36
NG_008607.2:g.28372C>T
NG_070230.1:g.33591C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1099+11C>T	ENSP00000489147.2:n.1099+11C>T
ENST00000414786.7:n.1683+11C>T
ENST00000445220.7:c.151+11C>T	ENSP00000489407.2:n.151+11C>T
ENST00000673971.2:c.1456+11C>T	ENSP00000501192.1:n.1456+11C>T
ENST00000445220.6:c.151+11C>T	ENSP00000489407.2:n.151+11C>T
ENST00000262795.6:c.1099+11C>T	ENSP00000489147.2:n.1099+11C>T
ENST00000673971.1:c.1456+11C>T	ENSP00000501192.1:n.1456+11C>T
ENST00000673995.1:c.152+11C>T
ENST00000262795.5:c.1495+11C>T	ENSP00000489147.1:n.1495+11C>T
ENST00000414786.6:n.1683+11C>T
ENST00000445220.5:c.1477+11C>T	ENSP00000489407.1:n.1477+11C>T