Canonical Allele Identifier: CA2586973118

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972481dup , CM000665.2:g.150972481dup	GRCh38
NC_000003.11:g.150690268dup , CM000665.1:g.150690268dup	GRCh37
NC_000003.10:g.152172958dup	NCBI36
NG_009168.1:g.5521dup , LRG_700:g.5521dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.230dup MANE Select	ENSP00000322280.1:p.Ala78SerfsTer?
ENST00000468836.2:c.206dup	ENSP00000419892.2:p.Ala70SerfsTer12
ENST00000644099.1:c.71dup	ENSP00000494762.1:p.Ala25SerfsTer9
ENST00000645441.1:c.72dup
ENST00000327047.5:c.230dup	ENSP00000322280.1:p.Ala78SerfsTer?
ENST00000328863.8:c.230dup	ENSP00000329158.4:p.Ala78SerfsTer?
ENST00000468836.1:c.-171dup	ENSP00000419892.1:n.-171dup
ENST00000472224.1:n.236dup
NM_001195794.1:c.230dup , LRG_700t1:c.230dup	NP_001182723.1:p.Ala78SerfsTer?
NM_001256819.1:c.230dup	NP_001243748.1:p.Ala78SerfsTer12
NM_174878.2:c.230dup	NP_777367.1:p.Ala78SerfsTer?
NR_046380.2:n.521dup
XR_924167.1:n.542dup
NM_001256819.2:c.230dup	NP_001243748.1:p.Ala78SerfsTer12
NM_174878.3:c.230dup MANE Select	NP_777367.1:p.Ala78SerfsTer?
NR_046380.3:n.249dup