Canonical Allele Identifier: CA5104570
Community Standard Title: NM_001358291.2(RMI1):c.1284_1288del (p.Lys428AsnfsTer6)
Gene: RMI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.84002270_84002274del , CM000671.2:g.84002270_84002274del GRCh38
NC_000009.11:g.86617185_86617189del , CM000671.1:g.86617185_86617189del GRCh37
NC_000009.10:g.85807005_85807009del NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001358291.2:c.1284_1288del MANE Select NP_001345220.1:p.Lys428AsnfsTer6
ENST00000445877.6:c.1284_1288del MANE Select ENSP00000402433.2:p.Lys428AsnfsTer6
NM_001358291.1:c.1284_1288del NP_001345220.1:p.Lys428AsnfsTer6
NM_001358292.1:c.1284_1288del NP_001345221.1:p.Lys428AsnfsTer6
NM_001358292.2:c.1284_1288del NP_001345221.1:p.Lys428AsnfsTer6
NM_001358293.1:c.1284_1288del NP_001345222.1:p.Lys428AsnfsTer6
NM_001358293.2:c.1284_1288del NP_001345222.1:p.Lys428AsnfsTer6
NM_001358294.1:c.1284_1288del NP_001345223.1:p.Lys428AsnfsTer6
NM_001358294.2:c.1284_1288del NP_001345223.1:p.Lys428AsnfsTer6
NM_024945.2:c.1284_1288del NP_079221.2:p.Lys428AsnfsTer6
NM_024945.3:c.1284_1288del NP_079221.2:p.Lys428AsnfsTer6
ENST00000325875.7:c.1284_1288del ENSP00000317039.3:p.Lys428AsnfsTer6
ENST00000615118.1:c.1284_1288del ENSP00000483816.1:p.Lys428AsnfsTer6
XM_005252211.1:c.1284_1288del XP_005252268.1:p.Lys428AsnfsTer6
XM_005252213.1:c.1284_1288del XP_005252270.1:p.Lys428AsnfsTer6
XM_011519034.1:c.1284_1288del XP_011517336.1:p.Lys428AsnfsTer6
XM_017015140.1:c.1284_1288del XP_016870629.1:p.Lys428AsnfsTer6