Canonical Allele Identifier: CA2577768359

Gene: SHANK3

Linked Data

• dbSNP Id: rs1194773081
• gnomAD v3: 22-50697762-G-T
• gnomAD v4: 22-50697762-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697762G>T , CM000684.2:g.50697762G>T	GRCh38
NC_000022.10:g.51136190G>T , CM000684.1:g.51136190G>T	GRCh37
NC_000022.9:g.49483056G>T	NCBI36
NG_008607.2:g.28408G>T
NG_070230.1:g.33626G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1099+47G>T	ENSP00000489147.2:n.1099+47G>T
ENST00000414786.7:n.1683+47G>T
ENST00000445220.7:c.151+47G>T	ENSP00000489407.2:n.151+47G>T
ENST00000673971.2:c.1456+47G>T	ENSP00000501192.1:n.1456+47G>T
ENST00000445220.6:c.151+47G>T	ENSP00000489407.2:n.151+47G>T
ENST00000262795.6:c.1099+47G>T	ENSP00000489147.2:n.1099+47G>T
ENST00000673971.1:c.1456+47G>T	ENSP00000501192.1:n.1456+47G>T
ENST00000673995.1:c.152+47G>T
ENST00000262795.5:c.1495+47G>T	ENSP00000489147.1:n.1495+47G>T
ENST00000414786.6:n.1683+47G>T
ENST00000445220.5:c.1477+47G>T	ENSP00000489407.1:n.1477+47G>T