Canonical Allele Identifier: CA2831039134

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972654del , CM000665.2:g.150972654del	GRCh38
NC_000003.11:g.150690441del , CM000665.1:g.150690441del	GRCh37
NC_000003.10:g.152173131del	NCBI36
NG_009168.1:g.5346del , LRG_700:g.5346del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.55del MANE Select	ENSP00000322280.1:p.Ala19HisfsTer7
ENST00000468836.2:c.31del	ENSP00000419892.2:p.Ala11HisfsTer7
ENST00000327047.5:c.55del	ENSP00000322280.1:p.Ala19HisfsTer7
ENST00000328863.8:c.55del	ENSP00000329158.4:p.Ala19HisfsTer7
ENST00000468836.1:c.-346del	ENSP00000419892.1:n.-346del
ENST00000472224.1:n.61del
NM_001195794.1:c.55del , LRG_700t1:c.55del	NP_001182723.1:p.Ala19HisfsTer7
NM_001256819.1:c.55del	NP_001243748.1:p.Ala19HisfsTer7
NM_174878.2:c.55del	NP_777367.1:p.Ala19HisfsTer7
NR_046380.2:n.346del
XR_924167.1:n.367del
NM_001256819.2:c.55del	NP_001243748.1:p.Ala19HisfsTer7
NM_174878.3:c.55del MANE Select	NP_777367.1:p.Ala19HisfsTer7
NR_046380.3:n.74del