Canonical Allele Identifier: CA2668197385

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150927853-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927857del , CM000665.2:g.150927857del	GRCh38
NC_000003.11:g.150645644del , CM000665.1:g.150645644del	GRCh37
NC_000003.10:g.152128334del	NCBI36
NG_009168.1:g.50146del , LRG_700:g.50146del

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.*82del MANE Select	ENSP00000322280.1:n.*82del
ENST00000295911.6:c.342+211del	ENSP00000295911.2:n.342+211del
ENST00000327047.5:c.*82del	ENSP00000322280.1:n.*82del
ENST00000562308.5:c.104+13728del
ENST00000565169.1:c.162+13728del
ENST00000569170.5:c.162+13728del
NM_001195794.1:c.*82del , LRG_700t1:c.*82del	NP_001182723.1:n.*82del
NM_001256819.1:c.*395del	NP_001243748.1:n.*395del
NM_052995.2:c.342+211del , LRG_700t2:c.342+211del	NP_443721.1:n.342+211del
NM_174878.2:c.*82del	NP_777367.1:n.*82del
NR_046380.2:n.1262del
XR_924167.1:n.1093del
NM_001256819.2:c.*395del	NP_001243748.1:n.*395del
NM_174878.3:c.*82del MANE Select	NP_777367.1:n.*82del
NR_046380.3:n.990del