Canonical Allele Identifier: CA2577935454

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150940516del , CM000665.2:g.150940516del	GRCh38
NC_000003.11:g.150658303del , CM000665.1:g.150658303del	GRCh37
NC_000003.10:g.152140993del	NCBI36
NG_009168.1:g.37486del , LRG_700:g.37486del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.433+1068del MANE Select	ENSP00000322280.1:n.433+1068del
ENST00000468836.2:c.581+1068del	ENSP00000419892.2:n.581+1068del
ENST00000644099.1:c.431del	ENSP00000494762.1:n.431del
ENST00000295911.6:c.205+1068del	ENSP00000295911.2:n.205+1068del
ENST00000327047.5:c.433+1068del	ENSP00000322280.1:n.433+1068del
ENST00000328863.8:c.439del	ENSP00000329158.4:p.Leu147PhefsTer19
ENST00000468836.1:c.205+1068del	ENSP00000419892.1:n.205+1068del
ENST00000485607.1:c.97+1068del	ENSP00000419244.1:n.97+1068del
ENST00000562308.5:c.104+1068del
ENST00000565169.1:c.162+1068del
ENST00000569170.5:c.162+1068del
NM_001195794.1:c.439del , LRG_700t1:c.439del	NP_001182723.1:p.Leu147PhefsTer19
NM_001256819.1:c.*47+1068del	NP_001243748.1:n.*47+1068del
NM_052995.2:c.205+1068del , LRG_700t2:c.205+1068del	NP_443721.1:n.205+1068del
NM_174878.2:c.433+1068del	NP_777367.1:n.433+1068del
NR_046380.2:n.881del
XR_924167.1:n.745+1068del
NM_001256819.2:c.*47+1068del	NP_001243748.1:n.*47+1068del
NM_174878.3:c.433+1068del MANE Select	NP_777367.1:n.433+1068del
NR_046380.3:n.609del