Canonical Allele Identifier: CA2668196872

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150926688-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150926692del , CM000665.2:g.150926692del	GRCh38
NC_000003.11:g.150644479del , CM000665.1:g.150644479del	GRCh37
NC_000003.10:g.152127169del	NCBI36
NG_009168.1:g.51311del , LRG_700:g.51311del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.*1247del MANE Select	ENSP00000322280.1:n.*1247del
ENST00000295911.6:c.*163del	ENSP00000295911.2:n.*163del
ENST00000327047.5:c.*1247del	ENSP00000322280.1:n.*1247del
ENST00000562308.5:c.104+14893del
ENST00000565169.1:c.162+14893del
ENST00000569170.5:c.162+14893del
NM_001195794.1:c.*1247del , LRG_700t1:c.*1247del	NP_001182723.1:n.*1247del
NM_001256819.1:c.*1560del	NP_001243748.1:n.*1560del
NM_052995.2:c.*163del , LRG_700t2:c.*163del	NP_443721.1:n.*163del
NM_174878.2:c.*1247del	NP_777367.1:n.*1247del
NR_046380.2:n.2427del
XR_924167.1:n.2258del
NM_001256819.2:c.*1560del	NP_001243748.1:n.*1560del
NM_174878.3:c.*1247del MANE Select	NP_777367.1:n.*1247del
NR_046380.3:n.2155del