Canonical Allele Identifier: CA2665987

Gene: CLRN1

Linked Data

• dbSNP Id: rs771739185
• ExAC: 3:150645708 AG / A
• gnomAD v2: 3-150645708-AG-A
• gnomAD v3: 3-150927921-AG-A
• gnomAD v4: 3-150927921-AG-A
• MyVariant Identifiers: chr3:g.150645709del (hg19) ; chr3:g.150927922del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927922del , CM000665.2:g.150927922del	GRCh38
NC_000003.11:g.150645709del , CM000665.1:g.150645709del	GRCh37
NC_000003.10:g.152128399del	NCBI36
NG_009168.1:g.50078del , LRG_700:g.50078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.*14del MANE Select	ENSP00000322280.1:n.*14del
ENST00000295911.6:c.342+143del	ENSP00000295911.2:n.342+143del
ENST00000327047.5:c.*14del	ENSP00000322280.1:n.*14del
ENST00000562308.5:c.104+13660del
ENST00000565169.1:c.162+13660del
ENST00000569170.5:c.162+13660del
NM_001195794.1:c.*14del , LRG_700t1:c.*14del	NP_001182723.1:n.*14del
NM_001256819.1:c.*327del	NP_001243748.1:n.*327del
NM_052995.2:c.342+143del , LRG_700t2:c.342+143del	NP_443721.1:n.342+143del
NM_174878.2:c.*14del	NP_777367.1:n.*14del
NR_046380.2:n.1194del
XR_924167.1:n.1025del
NM_001256819.2:c.*327del	NP_001243748.1:n.*327del
NM_174878.3:c.*14del MANE Select	NP_777367.1:n.*14del
NR_046380.3:n.922del