Canonical Allele Identifier: CA2668197524

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150940373-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150940375del , CM000665.2:g.150940375del	GRCh38
NC_000003.11:g.150658162del , CM000665.1:g.150658162del	GRCh37
NC_000003.10:g.152140852del	NCBI36
NG_009168.1:g.37626del , LRG_700:g.37626del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.433+1208del MANE Select	ENSP00000322280.1:n.433+1208del
ENST00000468836.2:c.581+1208del	ENSP00000419892.2:n.581+1208del
ENST00000295911.6:c.205+1208del	ENSP00000295911.2:n.205+1208del
ENST00000327047.5:c.433+1208del	ENSP00000322280.1:n.433+1208del
ENST00000328863.8:c.472+107del	ENSP00000329158.4:n.472+107del
ENST00000468836.1:c.205+1208del	ENSP00000419892.1:n.205+1208del
ENST00000485607.1:c.97+1208del	ENSP00000419244.1:n.97+1208del
ENST00000562308.5:c.104+1208del
ENST00000565169.1:c.162+1208del
ENST00000569170.5:c.162+1208del
NM_001195794.1:c.472+107del , LRG_700t1:c.472+107del	NP_001182723.1:n.472+107del
NM_001256819.1:c.*47+1208del	NP_001243748.1:n.*47+1208del
NM_052995.2:c.205+1208del , LRG_700t2:c.205+1208del	NP_443721.1:n.205+1208del
NM_174878.2:c.433+1208del	NP_777367.1:n.433+1208del
NR_046380.2:n.914+107del
XR_924167.1:n.745+1208del
NM_001256819.2:c.*47+1208del	NP_001243748.1:n.*47+1208del
NM_174878.3:c.433+1208del MANE Select	NP_777367.1:n.433+1208del
NR_046380.3:n.642+107del