Canonical Allele Identifier: CA1054915364

Gene: CLRN1

Linked Data

• dbSNP Id: rs1713778978
• gnomAD v3: 3-150940839-A-ATGTTTATT
• gnomAD v4: 3-150940839-A-ATGTTTATT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150940840_150940847dup , CM000665.2:g.150940840_150940847dup	GRCh38
NC_000003.11:g.150658627_150658634dup , CM000665.1:g.150658627_150658634dup	GRCh37
NC_000003.10:g.152141317_152141324dup	NCBI36
NG_009168.1:g.37153_37160dup , LRG_700:g.37153_37160dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.433+735_433+742dup MANE Select	ENSP00000322280.1:n.433+735_433+742dup
ENST00000468836.2:c.581+735_581+742dup	ENSP00000419892.2:n.581+735_581+742dup
ENST00000644099.1:c.426-328_426-321dup	ENSP00000494762.1:n.426-328_426-321dup
ENST00000295911.6:c.205+735_205+742dup	ENSP00000295911.2:n.205+735_205+742dup
ENST00000327047.5:c.433+735_433+742dup	ENSP00000322280.1:n.433+735_433+742dup
ENST00000328863.8:c.434-328_434-321dup	ENSP00000329158.4:n.434-328_434-321dup
ENST00000468836.1:c.205+735_205+742dup	ENSP00000419892.1:n.205+735_205+742dup
ENST00000485607.1:c.97+735_97+742dup	ENSP00000419244.1:n.97+735_97+742dup
ENST00000562308.5:c.104+735_104+742dup
ENST00000565169.1:c.162+735_162+742dup
ENST00000569170.5:c.162+735_162+742dup
NM_001195794.1:c.434-328_434-321dup , LRG_700t1:c.434-328_434-321dup	NP_001182723.1:n.434-328_434-321dup
NM_001256819.1:c.*47+735_*47+742dup	NP_001243748.1:n.*47+735_*47+742dup
NM_052995.2:c.205+735_205+742dup , LRG_700t2:c.205+735_205+742dup	NP_443721.1:n.205+735_205+742dup
NM_174878.2:c.433+735_433+742dup	NP_777367.1:n.433+735_433+742dup
NR_046380.2:n.876-328_876-321dup
XR_924167.1:n.745+735_745+742dup
NM_001256819.2:c.*47+735_*47+742dup	NP_001243748.1:n.*47+735_*47+742dup
NM_174878.3:c.433+735_433+742dup MANE Select	NP_777367.1:n.433+735_433+742dup
NR_046380.3:n.604-328_604-321dup