Canonical Allele Identifier: CA2697556927

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972571del , CM000665.2:g.150972571del	GRCh38
NC_000003.11:g.150690358del , CM000665.1:g.150690358del	GRCh37
NC_000003.10:g.152173048del	NCBI36
NG_009168.1:g.5429del , LRG_700:g.5429del

Transcript Alleles

HGVS	Amino-acid Change
NM_174878.3:c.138del MANE Select	NP_777367.1:p.Val47SerfsTer25
ENST00000327047.6:c.138del MANE Select	ENSP00000322280.1:p.Val47SerfsTer25
NM_001195794.1:c.138del , LRG_700t1:c.138del	NP_001182723.1:p.Val47SerfsTer25
NM_001256819.1:c.138del	NP_001243748.1:p.Val47SerfsTer25
NM_001256819.2:c.138del	NP_001243748.1:p.Val47SerfsTer25
NM_174878.2:c.138del	NP_777367.1:p.Val47SerfsTer25
NR_046380.2:n.429del
NR_046380.3:n.157del
ENST00000327047.5:c.138del	ENSP00000322280.1:p.Val47SerfsTer25
ENST00000328863.8:c.138del	ENSP00000329158.4:p.Val47SerfsTer25
ENST00000468836.1:c.-263del	ENSP00000419892.1:n.-263del
ENST00000468836.2:c.114del	ENSP00000419892.2:p.Val39SerfsTer25
ENST00000472224.1:n.144del
XR_924167.1:n.450del