Canonical Allele Identifier: CA2668197553

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150940426-TGGTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150940429_150940433del , CM000665.2:g.150940429_150940433del	GRCh38
NC_000003.11:g.150658216_150658220del , CM000665.1:g.150658216_150658220del	GRCh37
NC_000003.10:g.152140906_152140910del	NCBI36
NG_009168.1:g.37569_37573del , LRG_700:g.37569_37573del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.433+1151_433+1155del MANE Select	ENSP00000322280.1:n.433+1151_433+1155del
ENST00000468836.2:c.581+1151_581+1155del	ENSP00000419892.2:n.581+1151_581+1155del
ENST00000295911.6:c.205+1151_205+1155del	ENSP00000295911.2:n.205+1151_205+1155del
ENST00000327047.5:c.433+1151_433+1155del	ENSP00000322280.1:n.433+1151_433+1155del
ENST00000328863.8:c.472+50_472+54del	ENSP00000329158.4:n.472+50_472+54del
ENST00000468836.1:c.205+1151_205+1155del	ENSP00000419892.1:n.205+1151_205+1155del
ENST00000485607.1:c.97+1151_97+1155del	ENSP00000419244.1:n.97+1151_97+1155del
ENST00000562308.5:c.104+1151_104+1155del
ENST00000565169.1:c.162+1151_162+1155del
ENST00000569170.5:c.162+1151_162+1155del
NM_001195794.1:c.472+50_472+54del , LRG_700t1:c.472+50_472+54del	NP_001182723.1:n.472+50_472+54del
NM_001256819.1:c.*47+1151_*47+1155del	NP_001243748.1:n.*47+1151_*47+1155del
NM_052995.2:c.205+1151_205+1155del , LRG_700t2:c.205+1151_205+1155del	NP_443721.1:n.205+1151_205+1155del
NM_174878.2:c.433+1151_433+1155del	NP_777367.1:n.433+1151_433+1155del
NR_046380.2:n.914+50_914+54del
XR_924167.1:n.745+1151_745+1155del
NM_001256819.2:c.*47+1151_*47+1155del	NP_001243748.1:n.*47+1151_*47+1155del
NM_174878.3:c.433+1151_433+1155del MANE Select	NP_777367.1:n.433+1151_433+1155del
NR_046380.3:n.642+50_642+54del