Canonical Allele Identifier: CA2665939

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 343811
• ClinVar RCV Id: RCV000288081 ; RCV000352316
• dbSNP Id: rs34027634
• ExAC: 3:150645418 TACACAC / T
• gnomAD v2: 3-150645418-TACACAC-T
• gnomAD v3: 3-150927631-TACACAC-T
• gnomAD v4: 3-150927631-TACACAC-T
• MyVariant Identifiers: chr3:g.150645429_150645434del (hg19) ; chr3:g.150645419_150645424del (hg19) ; chr3:g.150927642_150927647del (hg38) ; chr3:g.150927632_150927637del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927655_150927660del , CM000665.2:g.150927655_150927660del	GRCh38
NC_000003.11:g.150645442_150645447del , CM000665.1:g.150645442_150645447del	GRCh37
NC_000003.10:g.152128132_152128137del	NCBI36
NG_009168.1:g.50363_50368del , LRG_700:g.50363_50368del

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.*299_*304del MANE Select	ENSP00000322280.1:n.*299_*304del
ENST00000295911.6:c.342+428_342+433del	ENSP00000295911.2:n.342+428_342+433del
ENST00000327047.5:c.*299_*304del	ENSP00000322280.1:n.*299_*304del
ENST00000562308.5:c.104+13945_104+13950del
ENST00000565169.1:c.162+13945_162+13950del
ENST00000569170.5:c.162+13945_162+13950del
NM_001195794.1:c.*299_*304del , LRG_700t1:c.*299_*304del	NP_001182723.1:n.*299_*304del
NM_001256819.1:c.*612_*617del	NP_001243748.1:n.*612_*617del
NM_052995.2:c.342+428_342+433del , LRG_700t2:c.342+428_342+433del	NP_443721.1:n.342+428_342+433del
NM_174878.2:c.*299_*304del	NP_777367.1:n.*299_*304del
NR_046380.2:n.1479_1484del
XR_924167.1:n.1310_1315del
NM_001256819.2:c.*612_*617del	NP_001243748.1:n.*612_*617del
NM_174878.3:c.*299_*304del MANE Select	NP_777367.1:n.*299_*304del
NR_046380.3:n.1207_1212del