Canonical Allele Identifier: CA2580099957

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 2298744
• ClinVar RCV Id: RCV002865502

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697611_50697621dup , CM000684.2:g.50697611_50697621dup	GRCh38
NC_000022.10:g.51136039_51136049dup , CM000684.1:g.51136039_51136049dup	GRCh37
NC_000022.9:g.49482905_49482915dup	NCBI36
NG_008607.2:g.28257_28267dup
NG_070230.1:g.33476_33486dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.995_1005dup	ENSP00000489147.2:p.Ser336GlyfsTer15
ENST00000414786.7:n.1579_1589dup
ENST00000445220.7:c.47_57dup	ENSP00000489407.2:p.Ser20GlyfsTer15
ENST00000673971.2:c.1352_1362dup	ENSP00000501192.1:p.Ser455GlyfsTer15
ENST00000445220.6:c.47_57dup	ENSP00000489407.2:p.Ser20GlyfsTer15
ENST00000262795.6:c.995_1005dup	ENSP00000489147.2:p.Ser336GlyfsTer15
ENST00000673971.1:c.1352_1362dup	ENSP00000501192.1:p.Ser455GlyfsTer15
ENST00000673995.1:c.48_58dup
ENST00000262795.5:c.1391_1401dup	ENSP00000489147.1:p.Ser468GlyfsTer15
ENST00000414786.6:n.1579_1589dup
ENST00000445220.5:c.1373_1383dup	ENSP00000489407.1:p.Ser462GlyfsTer15