Canonical Allele Identifier: CA2529845237

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150940835_150940838del , CM000665.2:g.150940835_150940838del	GRCh38
NC_000003.11:g.150658622_150658625del , CM000665.1:g.150658622_150658625del	GRCh37
NC_000003.10:g.152141312_152141315del	NCBI36
NG_009168.1:g.37162_37165del , LRG_700:g.37162_37165del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.433+744_433+747del MANE Select	ENSP00000322280.1:n.433+744_433+747del
ENST00000468836.2:c.581+744_581+747del	ENSP00000419892.2:n.581+744_581+747del
ENST00000644099.1:c.426-319_426-316del	ENSP00000494762.1:n.426-319_426-316del
ENST00000295911.6:c.205+744_205+747del	ENSP00000295911.2:n.205+744_205+747del
ENST00000327047.5:c.433+744_433+747del	ENSP00000322280.1:n.433+744_433+747del
ENST00000328863.8:c.434-319_434-316del	ENSP00000329158.4:n.434-319_434-316del
ENST00000468836.1:c.205+744_205+747del	ENSP00000419892.1:n.205+744_205+747del
ENST00000485607.1:c.97+744_97+747del	ENSP00000419244.1:n.97+744_97+747del
ENST00000562308.5:c.104+744_104+747del
ENST00000565169.1:c.162+744_162+747del
ENST00000569170.5:c.162+744_162+747del
NM_001195794.1:c.434-319_434-316del , LRG_700t1:c.434-319_434-316del	NP_001182723.1:n.434-319_434-316del
NM_001256819.1:c.*47+744_*47+747del	NP_001243748.1:n.*47+744_*47+747del
NM_052995.2:c.205+744_205+747del , LRG_700t2:c.205+744_205+747del	NP_443721.1:n.205+744_205+747del
NM_174878.2:c.433+744_433+747del	NP_777367.1:n.433+744_433+747del
NR_046380.2:n.876-319_876-316del
XR_924167.1:n.745+744_745+747del
NM_001256819.2:c.*47+744_*47+747del	NP_001243748.1:n.*47+744_*47+747del
NM_174878.3:c.433+744_433+747del MANE Select	NP_777367.1:n.433+744_433+747del
NR_046380.3:n.604-319_604-316del