Canonical Allele Identifier: CA16044366

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 375586
• ClinVar RCV Id: RCV000417048
• dbSNP Id: rs1057519395
• MyVariant Identifiers: chr22:g.51160290_51160291del (hg19) ; chr22:g.50721862_50721863del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721862_50721863del , CM000684.2:g.50721862_50721863del	GRCh38
NC_000022.10:g.51160290_51160291del , CM000684.1:g.51160290_51160291del	GRCh37
NC_000022.9:g.49507156_49507157del	NCBI36
NG_008607.2:g.52508_52509del
NG_070230.1:g.57646_57647del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3630_3631del	ENSP00000489147.2:p.Ser1210ArgfsTer7
ENST00000414786.7:n.4214_4215del
ENST00000445220.7:c.2682_2683del	ENSP00000489407.2:p.Ser894ArgfsTer7
ENST00000664402.2:c.2172_2173del	ENSP00000499475.1:p.Ser724ArgfsTer7
ENST00000673971.2:c.*2628_*2629del	ENSP00000501192.1:n.*2628_*2629del
ENST00000445220.6:c.2682_2683del	ENSP00000489407.2:p.Ser894ArgfsTer7
ENST00000262795.6:c.3630_3631del	ENSP00000489147.2:p.Ser1210ArgfsTer7
ENST00000664402.1:c.2172_2173del	ENSP00000499475.1:p.Ser724ArgfsTer7
ENST00000673971.1:c.*2628_*2629del	ENSP00000501192.1:n.*2628_*2629del
ENST00000262795.5:c.4026_4027del	ENSP00000489147.1:p.Ser1342ArgfsTer7
ENST00000414786.6:n.4214_4215del
ENST00000445220.5:c.4008_4009del	ENSP00000489407.1:p.Ser1336ArgfsTer7