Canonical Allele Identifier: CA85680863

Gene: CLRN1

Linked Data

• dbSNP Id: rs57361327

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928075dup , CM000665.2:g.150928075dup	GRCh38
NC_000003.11:g.150645862dup , CM000665.1:g.150645862dup	GRCh37
NC_000003.10:g.152128552dup	NCBI36
NG_009168.1:g.49926dup , LRG_700:g.49926dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.561dup MANE Select	ENSP00000322280.1:p.Ser188LeufsTer?
ENST00000468836.2:c.709dup	ENSP00000419892.2:n.709dup
ENST00000295911.6:c.333dup	ENSP00000295911.2:p.Ser112LeufsTer6
ENST00000327047.5:c.561dup	ENSP00000322280.1:p.Ser188LeufsTer?
ENST00000328863.8:c.600dup	ENSP00000329158.4:p.Ser201LeufsTer?
ENST00000468836.1:c.333dup	ENSP00000419892.1:p.Ser112LeufsTer?
ENST00000562308.5:c.104+13508dup
ENST00000565169.1:c.162+13508dup
ENST00000569170.5:c.162+13508dup
NM_001195794.1:c.600dup , LRG_700t1:c.600dup	NP_001182723.1:p.Ser201LeufsTer?
NM_001256819.1:c.*175dup	NP_001243748.1:n.*175dup
NM_052995.2:c.333dup , LRG_700t2:c.333dup	NP_443721.1:p.Ser112LeufsTer6
NM_174878.2:c.561dup	NP_777367.1:p.Ser188LeufsTer?
NR_046380.2:n.1042dup
XR_924167.1:n.873dup
NM_001256819.2:c.*175dup	NP_001243748.1:n.*175dup
NM_174878.3:c.561dup MANE Select	NP_777367.1:p.Ser188LeufsTer?
NR_046380.3:n.770dup