Canonical Allele Identifier: CA2668197390

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150927861-TATG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927862_150927864del , CM000665.2:g.150927862_150927864del	GRCh38
NC_000003.11:g.150645649_150645651del , CM000665.1:g.150645649_150645651del	GRCh37
NC_000003.10:g.152128339_152128341del	NCBI36
NG_009168.1:g.50136_50138del , LRG_700:g.50136_50138del

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.*72_*74del MANE Select	ENSP00000322280.1:n.*72_*74del
ENST00000295911.6:c.342+201_342+203del	ENSP00000295911.2:n.342+201_342+203del
ENST00000327047.5:c.*72_*74del	ENSP00000322280.1:n.*72_*74del
ENST00000562308.5:c.104+13718_104+13720del
ENST00000565169.1:c.162+13718_162+13720del
ENST00000569170.5:c.162+13718_162+13720del
NM_001195794.1:c.*72_*74del , LRG_700t1:c.*72_*74del	NP_001182723.1:n.*72_*74del
NM_001256819.1:c.*385_*387del	NP_001243748.1:n.*385_*387del
NM_052995.2:c.342+201_342+203del , LRG_700t2:c.342+201_342+203del	NP_443721.1:n.342+201_342+203del
NM_174878.2:c.*72_*74del	NP_777367.1:n.*72_*74del
NR_046380.2:n.1252_1254del
XR_924167.1:n.1083_1085del
NM_001256819.2:c.*385_*387del	NP_001243748.1:n.*385_*387del
NM_174878.3:c.*72_*74del MANE Select	NP_777367.1:n.*72_*74del
NR_046380.3:n.980_982del