Canonical Allele Identifier: CA2577333170
Gene: MCM8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.5967526_5967529del , CM000682.2:g.5967526_5967529del GRCh38
NC_000020.10:g.5948172_5948175del , CM000682.1:g.5948172_5948175del GRCh37
NC_000020.9:g.5896172_5896175del NCBI36
NG_042869.1:g.21875_21878del

Transcript Alleles

HGVS Amino-acid Change
ENST00000652720.1:c.966_969del ENSP00000498784.1:p.Ser322ArgfsTer7
ENST00000265187.4:c.966_969del ENSP00000265187.4:p.Ser322ArgfsTer7
ENST00000378883.5:c.966_969del ENSP00000368161.1:p.Ser322ArgfsTer7
ENST00000378886.6:c.966_969del ENSP00000368164.2:p.Ser322ArgfsTer7
ENST00000378896.7:c.966_969del ENSP00000368174.3:p.Ser322ArgfsTer7
ENST00000610722.4:c.966_969del MANE Select ENSP00000478141.1:p.Ser322ArgfsTer7
NM_001281520.1:c.966_969del NP_001268449.1:p.Ser322ArgfsTer7
NM_001281521.1:c.966_969del NP_001268450.1:p.Ser322ArgfsTer7
NM_001281522.1:c.966_969del NP_001268451.1:p.Ser322ArgfsTer7
NM_032485.5:c.966_969del NP_115874.3:p.Ser322ArgfsTer7
NM_182802.2:c.966_969del NP_877954.1:p.Ser322ArgfsTer7
XM_011529387.1:c.966_969del XP_011527689.1:p.Ser322ArgfsTer7
XR_937169.1:n.1306_1309del
XM_011529387.2:c.966_969del XP_011527689.1:p.Ser322ArgfsTer7
XM_017028105.1:c.966_969del XP_016883594.1:p.Ser322ArgfsTer7
XM_017028106.1:c.774_777del XP_016883595.1:p.Ser258ArgfsTer7
XM_017028107.1:c.117_120del XP_016883596.1:p.Ser39ArgfsTer7
XR_001754422.1:n.1306_1309del
XR_001754423.1:n.1306_1309del
NM_032485.6:c.966_969del MANE Select NP_115874.3:p.Ser322ArgfsTer7
NM_182802.3:c.966_969del NP_877954.1:p.Ser322ArgfsTer7
NM_001281520.2:c.966_969del NP_001268449.1:p.Ser322ArgfsTer7
NM_001281521.2:c.966_969del NP_001268450.1:p.Ser322ArgfsTer7
NM_001281522.2:c.966_969del NP_001268451.1:p.Ser322ArgfsTer7