Canonical Allele Identifier: CA2668198795

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150972383-AAATAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972387_150972391del , CM000665.2:g.150972387_150972391del	GRCh38
NC_000003.11:g.150690174_150690178del , CM000665.1:g.150690174_150690178del	GRCh37
NC_000003.10:g.152172864_152172868del	NCBI36
NG_009168.1:g.5612_5616del , LRG_700:g.5612_5616del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.253+68_253+72del MANE Select	ENSP00000322280.1:n.253+68_253+72del
ENST00000468836.2:c.229+68_229+72del	ENSP00000419892.2:n.229+68_229+72del
ENST00000644099.1:c.94+68_94+72del	ENSP00000494762.1:n.94+68_94+72del
ENST00000645441.1:c.95+68_95+72del
ENST00000327047.5:c.253+68_253+72del	ENSP00000322280.1:n.253+68_253+72del
ENST00000328863.8:c.253+68_253+72del	ENSP00000329158.4:n.253+68_253+72del
ENST00000468836.1:c.-148+68_-148+72del	ENSP00000419892.1:n.-148+68_-148+72del
ENST00000472224.1:n.259+68_259+72del
NM_001195794.1:c.253+68_253+72del , LRG_700t1:c.253+68_253+72del	NP_001182723.1:n.253+68_253+72del
NM_001256819.1:c.253+68_253+72del	NP_001243748.1:n.253+68_253+72del
NM_174878.2:c.253+68_253+72del	NP_777367.1:n.253+68_253+72del
NR_046380.2:n.544+68_544+72del
XR_924167.1:n.565+68_565+72del
NM_001256819.2:c.253+68_253+72del	NP_001243748.1:n.253+68_253+72del
NM_174878.3:c.253+68_253+72del MANE Select	NP_777367.1:n.253+68_253+72del
NR_046380.3:n.272+68_272+72del