Allele Registry

Canonical Allele Identifier: CA10603397

Gene: SHANK3 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr22:g.50722398del

GRCh37 chr22:g.51160826del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000285598

ClinVar Variation:

280176

dbSNP:

886041430

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722398del , CM000684.2:g.50722398del	GRCh38
NC_000022.10:g.51160826del , CM000684.1:g.51160826del	GRCh37
NC_000022.9:g.49507692del	NCBI36
NG_008607.2:g.53044del
NG_070230.1:g.58182del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4166del	ENSP00000489147.2:p.Leu1389ArgfsTer?
ENST00000414786.7:n.4750del
ENST00000445220.7:c.3218del	ENSP00000489407.2:p.Leu1073ArgfsTer?
ENST00000664402.2:c.2708del	ENSP00000499475.1:p.Leu903ArgfsTer?
ENST00000673971.2:c.*3164del	ENSP00000501192.1:n.*3164del
ENST00000445220.6:c.3218del	ENSP00000489407.2:p.Leu1073ArgfsTer?
ENST00000262795.6:c.4166del	ENSP00000489147.2:p.Leu1389ArgfsTer?
ENST00000664402.1:c.2708del	ENSP00000499475.1:p.Leu903ArgfsTer?
ENST00000673971.1:c.*3164del	ENSP00000501192.1:n.*3164del
ENST00000262795.5:c.4562del	ENSP00000489147.1:p.Leu1521ArgfsTer22
ENST00000414786.6:n.4750del
ENST00000445220.5:c.4544del	ENSP00000489407.1:p.Leu1515ArgfsTer22

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