Canonical Allele Identifier: CA1054915119

Gene: CLRN1

Linked Data

• dbSNP Id: rs1713741101
• gnomAD v3: 3-150940303-ATG-A
• gnomAD v4: 3-150940303-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150940306_150940307del , CM000665.2:g.150940306_150940307del	GRCh38
NC_000003.11:g.150658093_150658094del , CM000665.1:g.150658093_150658094del	GRCh37
NC_000003.10:g.152140783_152140784del	NCBI36
NG_009168.1:g.37695_37696del , LRG_700:g.37695_37696del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.433+1277_433+1278del MANE Select	ENSP00000322280.1:n.433+1277_433+1278del
ENST00000468836.2:c.581+1277_581+1278del	ENSP00000419892.2:n.581+1277_581+1278del
ENST00000295911.6:c.205+1277_205+1278del	ENSP00000295911.2:n.205+1277_205+1278del
ENST00000327047.5:c.433+1277_433+1278del	ENSP00000322280.1:n.433+1277_433+1278del
ENST00000328863.8:c.472+176_472+177del	ENSP00000329158.4:n.472+176_472+177del
ENST00000468836.1:c.205+1277_205+1278del	ENSP00000419892.1:n.205+1277_205+1278del
ENST00000485607.1:c.97+1277_97+1278del	ENSP00000419244.1:n.97+1277_97+1278del
ENST00000562308.5:c.104+1277_104+1278del
ENST00000565169.1:c.162+1277_162+1278del
ENST00000569170.5:c.162+1277_162+1278del
NM_001195794.1:c.472+176_472+177del , LRG_700t1:c.472+176_472+177del	NP_001182723.1:n.472+176_472+177del
NM_001256819.1:c.*47+1277_*47+1278del	NP_001243748.1:n.*47+1277_*47+1278del
NM_052995.2:c.205+1277_205+1278del , LRG_700t2:c.205+1277_205+1278del	NP_443721.1:n.205+1277_205+1278del
NM_174878.2:c.433+1277_433+1278del	NP_777367.1:n.433+1277_433+1278del
NR_046380.2:n.914+176_914+177del
XR_924167.1:n.745+1277_745+1278del
NM_001256819.2:c.*47+1277_*47+1278del	NP_001243748.1:n.*47+1277_*47+1278del
NM_174878.3:c.433+1277_433+1278del MANE Select	NP_777367.1:n.433+1277_433+1278del
NR_046380.3:n.642+176_642+177del