Canonical Allele Identifier: CA2758898216

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150940350_150940351del , CM000665.2:g.150940350_150940351del	GRCh38
NC_000003.11:g.150658137_150658138del , CM000665.1:g.150658137_150658138del	GRCh37
NC_000003.10:g.152140827_152140828del	NCBI36
NG_009168.1:g.37650_37651del , LRG_700:g.37650_37651del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.433+1232_433+1233del MANE Select	ENSP00000322280.1:n.433+1232_433+1233del
ENST00000468836.2:c.581+1232_581+1233del	ENSP00000419892.2:n.581+1232_581+1233del
ENST00000295911.6:c.205+1232_205+1233del	ENSP00000295911.2:n.205+1232_205+1233del
ENST00000327047.5:c.433+1232_433+1233del	ENSP00000322280.1:n.433+1232_433+1233del
ENST00000328863.8:c.472+131_472+132del	ENSP00000329158.4:n.472+131_472+132del
ENST00000468836.1:c.205+1232_205+1233del	ENSP00000419892.1:n.205+1232_205+1233del
ENST00000485607.1:c.97+1232_97+1233del	ENSP00000419244.1:n.97+1232_97+1233del
ENST00000562308.5:c.104+1232_104+1233del
ENST00000565169.1:c.162+1232_162+1233del
ENST00000569170.5:c.162+1232_162+1233del
NM_001195794.1:c.472+131_472+132del , LRG_700t1:c.472+131_472+132del	NP_001182723.1:n.472+131_472+132del
NM_001256819.1:c.*47+1232_*47+1233del	NP_001243748.1:n.*47+1232_*47+1233del
NM_052995.2:c.205+1232_205+1233del , LRG_700t2:c.205+1232_205+1233del	NP_443721.1:n.205+1232_205+1233del
NM_174878.2:c.433+1232_433+1233del	NP_777367.1:n.433+1232_433+1233del
NR_046380.2:n.914+131_914+132del
XR_924167.1:n.745+1232_745+1233del
NM_001256819.2:c.*47+1232_*47+1233del	NP_001243748.1:n.*47+1232_*47+1233del
NM_174878.3:c.433+1232_433+1233del MANE Select	NP_777367.1:n.433+1232_433+1233del
NR_046380.3:n.642+131_642+132del