Canonical Allele Identifier: CA900656584

Gene: CLRN1

Linked Data

• dbSNP Id: rs11366223
• gnomAD v3: 3-150926478-C-CAAAA
• gnomAD v4: 3-150926478-C-CAAAA
• MyVariant Identifiers: chr3:g.150644265_150644266insAAAA (hg19) ; chr3:g.150926478_150926479insAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150926487_150926490dup , CM000665.2:g.150926487_150926490dup	GRCh38
NC_000003.11:g.150644274_150644277dup , CM000665.1:g.150644274_150644277dup	GRCh37
NC_000003.10:g.152126964_152126967dup	NCBI36
NG_009168.1:g.51518_51521dup , LRG_700:g.51518_51521dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295911.6:c.*370_*373dup	ENSP00000295911.2:n.*370_*373dup
ENST00000562308.5:c.104+15100_104+15103dup
ENST00000565169.1:c.162+15100_162+15103dup
ENST00000569170.5:c.162+15100_162+15103dup
NM_052995.2:c.*370_*373dup , LRG_700t2:c.*370_*373dup	NP_443721.1:n.*370_*373dup
XR_924167.1:n.2465_2468dup