Canonical Allele Identifier: CA913102261

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150690341_150690345del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972556_150972560del , CM000665.2:g.150972556_150972560del	GRCh38
NC_000003.11:g.150690343_150690347del , CM000665.1:g.150690343_150690347del	GRCh37
NC_000003.10:g.152173033_152173037del	NCBI36
NG_009168.1:g.5444_5448del , LRG_700:g.5444_5448del

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.153_157del MANE Select	ENSP00000322280.1:p.Gln52AlafsTer7
ENST00000468836.2:c.129_133del	ENSP00000419892.2:p.Gln44AlafsTer7
ENST00000327047.5:c.153_157del	ENSP00000322280.1:p.Gln52AlafsTer7
ENST00000328863.8:c.153_157del	ENSP00000329158.4:p.Gln52AlafsTer7
ENST00000468836.1:c.-248_-244del	ENSP00000419892.1:n.-248_-244del
ENST00000472224.1:n.159_163del
NM_001195794.1:c.153_157del , LRG_700t1:c.153_157del	NP_001182723.1:p.Gln52AlafsTer7
NM_001256819.1:c.153_157del	NP_001243748.1:p.Gln52AlafsTer7
NM_174878.2:c.153_157del	NP_777367.1:p.Gln52AlafsTer7
NR_046380.2:n.444_448del
XR_924167.1:n.465_469del
NM_001256819.2:c.153_157del	NP_001243748.1:p.Gln52AlafsTer7
NM_174878.3:c.153_157del MANE Select	NP_777367.1:p.Gln52AlafsTer7
NR_046380.3:n.172_176del