Canonical Allele Identifier: CA547366922

Gene: CLRN1

Linked Data

• dbSNP Id: rs1437780410
• gnomAD v2: 3-150659790-TG-T
• gnomAD v3: 3-150942003-TG-T
• gnomAD v4: 3-150942003-TG-T
• MyVariant Identifiers: chr3:g.150659791del (hg19) ; chr3:g.150942004del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150942005del , CM000665.2:g.150942005del	GRCh38
NC_000003.11:g.150659792del , CM000665.1:g.150659792del	GRCh37
NC_000003.10:g.152142482del	NCBI36
NG_009168.1:g.35996del , LRG_700:g.35996del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.254-243del MANE Select	ENSP00000322280.1:n.254-243del
ENST00000468836.2:c.402-243del	ENSP00000419892.2:n.402-243del
ENST00000644099.1:c.246-243del	ENSP00000494762.1:n.246-243del
ENST00000295911.6:c.26-243del	ENSP00000295911.2:n.26-243del
ENST00000327047.5:c.254-243del	ENSP00000322280.1:n.254-243del
ENST00000328863.8:c.254-243del	ENSP00000329158.4:n.254-243del
ENST00000468836.1:c.26-243del	ENSP00000419892.1:n.26-243del
ENST00000472224.1:n.260-243del
ENST00000485607.1:c.-83-243del	ENSP00000419244.1:n.-83-243del
NM_001195794.1:c.254-243del , LRG_700t1:c.254-243del	NP_001182723.1:n.254-243del
NM_001256819.1:c.426-243del	NP_001243748.1:n.426-243del
NM_052995.2:c.26-243del , LRG_700t2:c.26-243del	NP_443721.1:n.26-243del
NM_174878.2:c.254-243del	NP_777367.1:n.254-243del
NR_046380.2:n.696-243del
XR_924167.1:n.566-243del
NM_001256819.2:c.426-243del	NP_001243748.1:n.426-243del
NM_174878.3:c.254-243del MANE Select	NP_777367.1:n.254-243del
NR_046380.3:n.424-243del