Canonical Allele Identifier: CA1410888523

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941709_150941714delinsAATGAC , CM000665.2:g.150941709_150941714delinsAATGAC	GRCh38
NC_000003.11:g.150659496_150659501delinsAATGAC , CM000665.1:g.150659496_150659501delinsAATGAC	GRCh37
NC_000003.10:g.152142186_152142191delinsAATGAC	NCBI36
NG_009168.1:g.36286_36291delinsGTCATT , LRG_700:g.36286_36291delinsGTCATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.301_306delinsGTCATT MANE Select	ENSP00000322280.1:p.Val101=
ENST00000468836.2:c.449_454delinsGTCATT	ENSP00000419892.2:p.Cys150=
ENST00000644099.1:c.293_298delinsGTCATT	ENSP00000494762.1:n.293_298delinsGTCATT
ENST00000295911.6:c.73_78delinsGTCATT	ENSP00000295911.2:p.Val25=
ENST00000327047.5:c.301_306delinsGTCATT	ENSP00000322280.1:p.Val101=
ENST00000328863.8:c.301_306delinsGTCATT	ENSP00000329158.4:p.Val101=
ENST00000468836.1:c.73_78delinsGTCATT	ENSP00000419892.1:p.Val25=
ENST00000472224.1:n.307_312delinsGTCATT
ENST00000485607.1:c.-36_-31delinsGTCATT	ENSP00000419244.1:n.-36_-31delinsGTCATT
ENST00000565169.1:c.30_35delinsGTCATT
ENST00000569170.5:c.30_35delinsGTCATT
NM_001195794.1:c.301_306delinsGTCATT , LRG_700t1:c.301_306delinsGTCATT	NP_001182723.1:p.Val101=
NM_001256819.1:c.473_478delinsGTCATT	NP_001243748.1:p.Cys158=
NM_052995.2:c.73_78delinsGTCATT , LRG_700t2:c.73_78delinsGTCATT	NP_443721.1:p.Val25=
NM_174878.2:c.301_306delinsGTCATT	NP_777367.1:p.Val101=
NR_046380.2:n.743_748delinsGTCATT
XR_924167.1:n.613_618delinsGTCATT
NM_001256819.2:c.473_478delinsGTCATT	NP_001243748.1:p.Cys158=
NM_174878.3:c.301_306delinsGTCATT MANE Select	NP_777367.1:p.Val101=
NR_046380.3:n.471_476delinsGTCATT