Canonical Allele Identifier: CA547369144

Gene: CLRN1

Linked Data

• dbSNP Id: rs1374099886
• gnomAD v2: 3-150690230-A-AT
• gnomAD v3: 3-150972443-A-AT
• gnomAD v4: 3-150972443-A-AT
• MyVariant Identifiers: chr3:g.150690230_150690231insT (hg19) ; chr3:g.150972443_150972444insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972443_150972444insT , CM000665.2:g.150972443_150972444insT	GRCh38
NC_000003.11:g.150690230_150690231insT , CM000665.1:g.150690230_150690231insT	GRCh37
NC_000003.10:g.152172920_152172921insT	NCBI36
NG_009168.1:g.5556_5557insA , LRG_700:g.5556_5557insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.253+12_253+13insA MANE Select	ENSP00000322280.1:n.253+12_253+13insA
ENST00000468836.2:c.229+12_229+13insA	ENSP00000419892.2:n.229+12_229+13insA
ENST00000644099.1:c.94+12_94+13insA	ENSP00000494762.1:n.94+12_94+13insA
ENST00000645441.1:c.95+12_95+13insA
ENST00000327047.5:c.253+12_253+13insA	ENSP00000322280.1:n.253+12_253+13insA
ENST00000328863.8:c.253+12_253+13insA	ENSP00000329158.4:n.253+12_253+13insA
ENST00000468836.1:c.-148+12_-148+13insA	ENSP00000419892.1:n.-148+12_-148+13insA
ENST00000472224.1:n.259+12_259+13insA
NM_001195794.1:c.253+12_253+13insA , LRG_700t1:c.253+12_253+13insA	NP_001182723.1:n.253+12_253+13insA
NM_001256819.1:c.253+12_253+13insA	NP_001243748.1:n.253+12_253+13insA
NM_174878.2:c.253+12_253+13insA	NP_777367.1:n.253+12_253+13insA
NR_046380.2:n.544+12_544+13insA
XR_924167.1:n.565+12_565+13insA
NM_001256819.2:c.253+12_253+13insA	NP_001243748.1:n.253+12_253+13insA
NM_174878.3:c.253+12_253+13insA MANE Select	NP_777367.1:n.253+12_253+13insA
NR_046380.3:n.272+12_272+13insA