Canonical Allele Identifier: CA2666060

Gene: CLRN1

Linked Data

• dbSNP Id: rs776487208
• ExAC: 3:150659321 A / AT
• gnomAD v2: 3-150659321-A-AT
• gnomAD v4: 3-150941534-A-AT
• MyVariant Identifiers: chr3:g.150659321_150659322insT (hg19) ; chr3:g.150941534_150941535insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941534_150941535insT , CM000665.2:g.150941534_150941535insT	GRCh38
NC_000003.11:g.150659321_150659322insT , CM000665.1:g.150659321_150659322insT	GRCh37
NC_000003.10:g.152142011_152142012insT	NCBI36
NG_009168.1:g.36465_36466insA , LRG_700:g.36465_36466insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.433+47_433+48insA MANE Select	ENSP00000322280.1:n.433+47_433+48insA
ENST00000468836.2:c.581+47_581+48insA	ENSP00000419892.2:n.581+47_581+48insA
ENST00000644099.1:c.425+47_425+48insA	ENSP00000494762.1:n.425+47_425+48insA
ENST00000295911.6:c.205+47_205+48insA	ENSP00000295911.2:n.205+47_205+48insA
ENST00000327047.5:c.433+47_433+48insA	ENSP00000322280.1:n.433+47_433+48insA
ENST00000328863.8:c.433+47_433+48insA	ENSP00000329158.4:n.433+47_433+48insA
ENST00000468836.1:c.205+47_205+48insA	ENSP00000419892.1:n.205+47_205+48insA
ENST00000472224.1:n.486_487insA
ENST00000485607.1:c.97+47_97+48insA	ENSP00000419244.1:n.97+47_97+48insA
ENST00000562308.5:c.104+47_104+48insA
ENST00000565169.1:c.162+47_162+48insA
ENST00000569170.5:c.162+47_162+48insA
NM_001195794.1:c.433+47_433+48insA , LRG_700t1:c.433+47_433+48insA	NP_001182723.1:n.433+47_433+48insA
NM_001256819.1:c.*47+47_*47+48insA	NP_001243748.1:n.*47+47_*47+48insA
NM_052995.2:c.205+47_205+48insA , LRG_700t2:c.205+47_205+48insA	NP_443721.1:n.205+47_205+48insA
NM_174878.2:c.433+47_433+48insA	NP_777367.1:n.433+47_433+48insA
NR_046380.2:n.875+47_875+48insA
XR_924167.1:n.745+47_745+48insA
NM_001256819.2:c.*47+47_*47+48insA	NP_001243748.1:n.*47+47_*47+48insA
NM_174878.3:c.433+47_433+48insA MANE Select	NP_777367.1:n.433+47_433+48insA
NR_046380.3:n.603+47_603+48insA