Canonical Allele Identifier: CA2758898270

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150940630_150940631insAC , CM000665.2:g.150940630_150940631insAC	GRCh38
NC_000003.11:g.150658417_150658418insAC , CM000665.1:g.150658417_150658418insAC	GRCh37
NC_000003.10:g.152141107_152141108insAC	NCBI36
NG_009168.1:g.37370_37371insTG , LRG_700:g.37370_37371insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.433+952_433+953insTG MANE Select	ENSP00000322280.1:n.433+952_433+953insTG
ENST00000468836.2:c.581+952_581+953insTG	ENSP00000419892.2:n.581+952_581+953insTG
ENST00000644099.1:c.426-111_426-110insTG	ENSP00000494762.1:n.426-111_426-110insTG
ENST00000295911.6:c.205+952_205+953insTG	ENSP00000295911.2:n.205+952_205+953insTG
ENST00000327047.5:c.433+952_433+953insTG	ENSP00000322280.1:n.433+952_433+953insTG
ENST00000328863.8:c.434-111_434-110insTG	ENSP00000329158.4:n.434-111_434-110insTG
ENST00000468836.1:c.205+952_205+953insTG	ENSP00000419892.1:n.205+952_205+953insTG
ENST00000485607.1:c.97+952_97+953insTG	ENSP00000419244.1:n.97+952_97+953insTG
ENST00000562308.5:c.104+952_104+953insTG
ENST00000565169.1:c.162+952_162+953insTG
ENST00000569170.5:c.162+952_162+953insTG
NM_001195794.1:c.434-111_434-110insTG , LRG_700t1:c.434-111_434-110insTG	NP_001182723.1:n.434-111_434-110insTG
NM_001256819.1:c.*47+952_*47+953insTG	NP_001243748.1:n.*47+952_*47+953insTG
NM_052995.2:c.205+952_205+953insTG , LRG_700t2:c.205+952_205+953insTG	NP_443721.1:n.205+952_205+953insTG
NM_174878.2:c.433+952_433+953insTG	NP_777367.1:n.433+952_433+953insTG
NR_046380.2:n.876-111_876-110insTG
XR_924167.1:n.745+952_745+953insTG
NM_001256819.2:c.*47+952_*47+953insTG	NP_001243748.1:n.*47+952_*47+953insTG
NM_174878.3:c.433+952_433+953insTG MANE Select	NP_777367.1:n.433+952_433+953insTG
NR_046380.3:n.604-111_604-110insTG