Canonical Allele Identifier: CA2758898255

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150940605_150940606del , CM000665.2:g.150940605_150940606del	GRCh38
NC_000003.11:g.150658392_150658393del , CM000665.1:g.150658392_150658393del	GRCh37
NC_000003.10:g.152141082_152141083del	NCBI36
NG_009168.1:g.37394_37395del , LRG_700:g.37394_37395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.433+976_433+977del MANE Select	ENSP00000322280.1:n.433+976_433+977del
ENST00000468836.2:c.581+976_581+977del	ENSP00000419892.2:n.581+976_581+977del
ENST00000644099.1:c.426-87_426-86del	ENSP00000494762.1:n.426-87_426-86del
ENST00000295911.6:c.205+976_205+977del	ENSP00000295911.2:n.205+976_205+977del
ENST00000327047.5:c.433+976_433+977del	ENSP00000322280.1:n.433+976_433+977del
ENST00000328863.8:c.434-87_434-86del	ENSP00000329158.4:n.434-87_434-86del
ENST00000468836.1:c.205+976_205+977del	ENSP00000419892.1:n.205+976_205+977del
ENST00000485607.1:c.97+976_97+977del	ENSP00000419244.1:n.97+976_97+977del
ENST00000562308.5:c.104+976_104+977del
ENST00000565169.1:c.162+976_162+977del
ENST00000569170.5:c.162+976_162+977del
NM_001195794.1:c.434-87_434-86del , LRG_700t1:c.434-87_434-86del	NP_001182723.1:n.434-87_434-86del
NM_001256819.1:c.*47+976_*47+977del	NP_001243748.1:n.*47+976_*47+977del
NM_052995.2:c.205+976_205+977del , LRG_700t2:c.205+976_205+977del	NP_443721.1:n.205+976_205+977del
NM_174878.2:c.433+976_433+977del	NP_777367.1:n.433+976_433+977del
NR_046380.2:n.876-87_876-86del
XR_924167.1:n.745+976_745+977del
NM_001256819.2:c.*47+976_*47+977del	NP_001243748.1:n.*47+976_*47+977del
NM_174878.3:c.433+976_433+977del MANE Select	NP_777367.1:n.433+976_433+977del
NR_046380.3:n.604-87_604-86del