Canonical Allele Identifier: CA1410883172

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927923_150927929delinsAAAGGTT , CM000665.2:g.150927923_150927929delinsAAAGGTT	GRCh38
NC_000003.11:g.150645710_150645716delinsAAAGGTT , CM000665.1:g.150645710_150645716delinsAAAGGTT	GRCh37
NC_000003.10:g.152128400_152128406delinsAAAGGTT	NCBI36
NG_009168.1:g.50071_50077delinsAACCTTT , LRG_700:g.50071_50077delinsAACCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.*7_*13delinsAACCTTT MANE Select	ENSP00000322280.1:n.*7_*13delinsAACCTTT
ENST00000295911.6:c.342+136_342+142delinsAACCTTT	ENSP00000295911.2:n.342+136_342+142delinsAACCTTT
ENST00000327047.5:c.*7_*13delinsAACCTTT	ENSP00000322280.1:n.*7_*13delinsAACCTTT
ENST00000562308.5:c.104+13653_104+13659delinsAACCTTT
ENST00000565169.1:c.162+13653_162+13659delinsAACCTTT
ENST00000569170.5:c.162+13653_162+13659delinsAACCTTT
NM_001195794.1:c.*7_*13delinsAACCTTT , LRG_700t1:c.*7_*13delinsAACCTTT	NP_001182723.1:n.*7_*13delinsAACCTTT
NM_001256819.1:c.*320_*326delinsAACCTTT	NP_001243748.1:n.*320_*326delinsAACCTTT
NM_052995.2:c.342+136_342+142delinsAACCTTT , LRG_700t2:c.342+136_342+142delinsAACCTTT	NP_443721.1:n.342+136_342+142delinsAACCTTT
NM_174878.2:c.*7_*13delinsAACCTTT	NP_777367.1:n.*7_*13delinsAACCTTT
NR_046380.2:n.1187_1193delinsAACCTTT
XR_924167.1:n.1018_1024delinsAACCTTT
NM_001256819.2:c.*320_*326delinsAACCTTT	NP_001243748.1:n.*320_*326delinsAACCTTT
NM_174878.3:c.*7_*13delinsAACCTTT MANE Select	NP_777367.1:n.*7_*13delinsAACCTTT
NR_046380.3:n.915_921delinsAACCTTT