Canonical Allele Identifier: CA2758898267
Gene: CLRN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150940628_150940629insA , CM000665.2:g.150940628_150940629insA GRCh38
NC_000003.11:g.150658415_150658416insA , CM000665.1:g.150658415_150658416insA GRCh37
NC_000003.10:g.152141105_152141106insA NCBI36
NG_009168.1:g.37371_37372insT , LRG_700:g.37371_37372insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.433+953_433+954insT MANE Select ENSP00000322280.1:n.433+953_433+954insT
ENST00000468836.2:c.581+953_581+954insT ENSP00000419892.2:n.581+953_581+954insT
ENST00000644099.1:c.426-110_426-109insT ENSP00000494762.1:n.426-110_426-109insT
ENST00000295911.6:c.205+953_205+954insT ENSP00000295911.2:n.205+953_205+954insT
ENST00000327047.5:c.433+953_433+954insT ENSP00000322280.1:n.433+953_433+954insT
ENST00000328863.8:c.434-110_434-109insT ENSP00000329158.4:n.434-110_434-109insT
ENST00000468836.1:c.205+953_205+954insT ENSP00000419892.1:n.205+953_205+954insT
ENST00000485607.1:c.97+953_97+954insT ENSP00000419244.1:n.97+953_97+954insT
ENST00000562308.5:c.104+953_104+954insT
ENST00000565169.1:c.162+953_162+954insT
ENST00000569170.5:c.162+953_162+954insT
NM_001195794.1:c.434-110_434-109insT , LRG_700t1:c.434-110_434-109insT NP_001182723.1:n.434-110_434-109insT
NM_001256819.1:c.*47+953_*47+954insT NP_001243748.1:n.*47+953_*47+954insT
NM_052995.2:c.205+953_205+954insT , LRG_700t2:c.205+953_205+954insT NP_443721.1:n.205+953_205+954insT
NM_174878.2:c.433+953_433+954insT NP_777367.1:n.433+953_433+954insT
NR_046380.2:n.876-110_876-109insT
XR_924167.1:n.745+953_745+954insT
NM_001256819.2:c.*47+953_*47+954insT NP_001243748.1:n.*47+953_*47+954insT
NM_174878.3:c.433+953_433+954insT MANE Select NP_777367.1:n.433+953_433+954insT
NR_046380.3:n.604-110_604-109insT