Canonical Allele Identifier: CA436265224

Gene: CLRN1

Linked Data

• COSMIC: COSM1167691 ; COSM1167692
• MyVariant Identifiers: chr3:g.150659387del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941601del , CM000665.2:g.150941601del	GRCh38
NC_000003.11:g.150659388del , CM000665.1:g.150659388del	GRCh37
NC_000003.10:g.152142078del	NCBI36
NG_009168.1:g.36400del , LRG_700:g.36400del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.415del MANE Select	ENSP00000322280.1:p.Leu139PhefsTer2
ENST00000468836.2:c.563del	ENSP00000419892.2:n.563del
ENST00000644099.1:c.407del	ENSP00000494762.1:n.407del
ENST00000295911.6:c.187del	ENSP00000295911.2:p.Leu63PhefsTer2
ENST00000327047.5:c.415del	ENSP00000322280.1:p.Leu139PhefsTer2
ENST00000328863.8:c.415del	ENSP00000329158.4:p.Leu139PhefsTer2
ENST00000468836.1:c.187del	ENSP00000419892.1:p.Leu63PhefsTer2
ENST00000472224.1:n.421del
ENST00000485607.1:c.79del	ENSP00000419244.1:p.Leu27PhefsTer2
ENST00000562308.5:c.86del
ENST00000565169.1:c.144del
ENST00000569170.5:c.144del
NM_001195794.1:c.415del , LRG_700t1:c.415del	NP_001182723.1:p.Leu139PhefsTer2
NM_001256819.1:c.*29del	NP_001243748.1:n.*29del
NM_052995.2:c.187del , LRG_700t2:c.187del	NP_443721.1:p.Leu63PhefsTer2
NM_174878.2:c.415del	NP_777367.1:p.Leu139PhefsTer2
NR_046380.2:n.857del
XR_924167.1:n.727del
NM_001256819.2:c.*29del	NP_001243748.1:n.*29del
NM_174878.3:c.415del MANE Select	NP_777367.1:p.Leu139PhefsTer2
NR_046380.3:n.585del