Canonical Allele Identifier: CA2668198815

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150972435-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972436del , CM000665.2:g.150972436del	GRCh38
NC_000003.11:g.150690223del , CM000665.1:g.150690223del	GRCh37
NC_000003.10:g.152172913del	NCBI36
NG_009168.1:g.5564del , LRG_700:g.5564del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.253+20del MANE Select	ENSP00000322280.1:n.253+20del
ENST00000468836.2:c.229+20del	ENSP00000419892.2:n.229+20del
ENST00000644099.1:c.94+20del	ENSP00000494762.1:n.94+20del
ENST00000645441.1:c.95+20del
ENST00000327047.5:c.253+20del	ENSP00000322280.1:n.253+20del
ENST00000328863.8:c.253+20del	ENSP00000329158.4:n.253+20del
ENST00000468836.1:c.-148+20del	ENSP00000419892.1:n.-148+20del
ENST00000472224.1:n.259+20del
NM_001195794.1:c.253+20del , LRG_700t1:c.253+20del	NP_001182723.1:n.253+20del
NM_001256819.1:c.253+20del	NP_001243748.1:n.253+20del
NM_174878.2:c.253+20del	NP_777367.1:n.253+20del
NR_046380.2:n.544+20del
XR_924167.1:n.565+20del
NM_001256819.2:c.253+20del	NP_001243748.1:n.253+20del
NM_174878.3:c.253+20del MANE Select	NP_777367.1:n.253+20del
NR_046380.3:n.272+20del