Canonical Allele Identifier: CA2668197656

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150940645-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150940647_150940648del , CM000665.2:g.150940647_150940648del	GRCh38
NC_000003.11:g.150658434_150658435del , CM000665.1:g.150658434_150658435del	GRCh37
NC_000003.10:g.152141124_152141125del	NCBI36
NG_009168.1:g.37353_37354del , LRG_700:g.37353_37354del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.433+935_433+936del MANE Select	ENSP00000322280.1:n.433+935_433+936del
ENST00000468836.2:c.581+935_581+936del	ENSP00000419892.2:n.581+935_581+936del
ENST00000644099.1:c.426-128_426-127del	ENSP00000494762.1:n.426-128_426-127del
ENST00000295911.6:c.205+935_205+936del	ENSP00000295911.2:n.205+935_205+936del
ENST00000327047.5:c.433+935_433+936del	ENSP00000322280.1:n.433+935_433+936del
ENST00000328863.8:c.434-128_434-127del	ENSP00000329158.4:n.434-128_434-127del
ENST00000468836.1:c.205+935_205+936del	ENSP00000419892.1:n.205+935_205+936del
ENST00000485607.1:c.97+935_97+936del	ENSP00000419244.1:n.97+935_97+936del
ENST00000562308.5:c.104+935_104+936del
ENST00000565169.1:c.162+935_162+936del
ENST00000569170.5:c.162+935_162+936del
NM_001195794.1:c.434-128_434-127del , LRG_700t1:c.434-128_434-127del	NP_001182723.1:n.434-128_434-127del
NM_001256819.1:c.*47+935_*47+936del	NP_001243748.1:n.*47+935_*47+936del
NM_052995.2:c.205+935_205+936del , LRG_700t2:c.205+935_205+936del	NP_443721.1:n.205+935_205+936del
NM_174878.2:c.433+935_433+936del	NP_777367.1:n.433+935_433+936del
NR_046380.2:n.876-128_876-127del
XR_924167.1:n.745+935_745+936del
NM_001256819.2:c.*47+935_*47+936del	NP_001243748.1:n.*47+935_*47+936del
NM_174878.3:c.433+935_433+936del MANE Select	NP_777367.1:n.433+935_433+936del
NR_046380.3:n.604-128_604-127del