Canonical Allele Identifier: CA900632801

Gene: CLRN1

Linked Data

• dbSNP Id: rs985152446
• gnomAD v3: 3-150940400-TAG-T
• gnomAD v4: 3-150940400-TAG-T
• MyVariant Identifiers: chr3:g.150658188_150658189del (hg19) ; chr3:g.150940401_150940402del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150940410_150940411del , CM000665.2:g.150940410_150940411del	GRCh38
NC_000003.11:g.150658197_150658198del , CM000665.1:g.150658197_150658198del	GRCh37
NC_000003.10:g.152140887_152140888del	NCBI36
NG_009168.1:g.37598_37599del , LRG_700:g.37598_37599del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.433+1180_433+1181del MANE Select	ENSP00000322280.1:n.433+1180_433+1181del
ENST00000468836.2:c.581+1180_581+1181del	ENSP00000419892.2:n.581+1180_581+1181del
ENST00000295911.6:c.205+1180_205+1181del	ENSP00000295911.2:n.205+1180_205+1181del
ENST00000327047.5:c.433+1180_433+1181del	ENSP00000322280.1:n.433+1180_433+1181del
ENST00000328863.8:c.472+79_472+80del	ENSP00000329158.4:n.472+79_472+80del
ENST00000468836.1:c.205+1180_205+1181del	ENSP00000419892.1:n.205+1180_205+1181del
ENST00000485607.1:c.97+1180_97+1181del	ENSP00000419244.1:n.97+1180_97+1181del
ENST00000562308.5:c.104+1180_104+1181del
ENST00000565169.1:c.162+1180_162+1181del
ENST00000569170.5:c.162+1180_162+1181del
NM_001195794.1:c.472+79_472+80del , LRG_700t1:c.472+79_472+80del	NP_001182723.1:n.472+79_472+80del
NM_001256819.1:c.*47+1180_*47+1181del	NP_001243748.1:n.*47+1180_*47+1181del
NM_052995.2:c.205+1180_205+1181del , LRG_700t2:c.205+1180_205+1181del	NP_443721.1:n.205+1180_205+1181del
NM_174878.2:c.433+1180_433+1181del	NP_777367.1:n.433+1180_433+1181del
NR_046380.2:n.914+79_914+80del
XR_924167.1:n.745+1180_745+1181del
NM_001256819.2:c.*47+1180_*47+1181del	NP_001243748.1:n.*47+1180_*47+1181del
NM_174878.3:c.433+1180_433+1181del MANE Select	NP_777367.1:n.433+1180_433+1181del
NR_046380.3:n.642+79_642+80del