Canonical Allele Identifier: CA2586973119

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972483dup , CM000665.2:g.150972483dup	GRCh38
NC_000003.11:g.150690270dup , CM000665.1:g.150690270dup	GRCh37
NC_000003.10:g.152172960dup	NCBI36
NG_009168.1:g.5518dup , LRG_700:g.5518dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.227dup MANE Select	ENSP00000322280.1:p.Leu76PhefsTer?
ENST00000468836.2:c.203dup	ENSP00000419892.2:p.Leu68PhefsTer14
ENST00000644099.1:c.68dup	ENSP00000494762.1:p.Leu23PhefsTer11
ENST00000645441.1:c.69dup
ENST00000327047.5:c.227dup	ENSP00000322280.1:p.Leu76PhefsTer?
ENST00000328863.8:c.227dup	ENSP00000329158.4:p.Leu76PhefsTer?
ENST00000468836.1:c.-174dup	ENSP00000419892.1:n.-174dup
ENST00000472224.1:n.233dup
NM_001195794.1:c.227dup , LRG_700t1:c.227dup	NP_001182723.1:p.Leu76PhefsTer?
NM_001256819.1:c.227dup	NP_001243748.1:p.Leu76PhefsTer14
NM_174878.2:c.227dup	NP_777367.1:p.Leu76PhefsTer?
NR_046380.2:n.518dup
XR_924167.1:n.539dup
NM_001256819.2:c.227dup	NP_001243748.1:p.Leu76PhefsTer14
NM_174878.3:c.227dup MANE Select	NP_777367.1:p.Leu76PhefsTer?
NR_046380.3:n.246dup