Canonical Allele Identifier: CA2566925199
Gene: MRC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.17849694_17849699del , CM000672.2:g.17849694_17849699del GRCh38
NG_047011.1:g.45352_45357del

Transcript Alleles

HGVS Amino-acid Change
ENST00000569591.3:c.1179_1184del MANE Select ENSP00000455897.1:p.Lys393_Gly395delinsAsn
ENST00000569591.2:c.1179_1184del ENSP00000455897.1:p.Lys393_Gly395delinsAsn
NM_002438.3:c.1179_1184del NP_002429.1:p.Lys393_Gly395delinsAsn
NM_002438.4:c.1179_1184del MANE Select NP_002429.1:p.Lys393_Gly395delinsAsn