Canonical Allele Identifier: CA9756646

Gene: MCM8

Linked Data

• dbSNP Id: rs756394013
• ExAC: 20:5948170 AGCTGT / A
• MyVariant Identifiers: chr20:g.5948171_5948175del (hg19) ; chr20:g.5967525_5967529del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.5967526_5967530del , CM000682.2:g.5967526_5967530del	GRCh38
NC_000020.10:g.5948172_5948176del , CM000682.1:g.5948172_5948176del	GRCh37
NC_000020.9:g.5896172_5896176del	NCBI36
NG_042869.1:g.21875_21879del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652720.1:c.966_970del	ENSP00000498784.1:p.Cys323ProfsTer23
ENST00000265187.4:c.966_970del	ENSP00000265187.4:p.Cys323ProfsTer23
ENST00000378883.5:c.966_970del	ENSP00000368161.1:p.Cys323ProfsTer23
ENST00000378886.6:c.966_970del	ENSP00000368164.2:p.Cys323ProfsTer23
ENST00000378896.7:c.966_970del	ENSP00000368174.3:p.Cys323ProfsTer23
ENST00000610722.4:c.966_970del MANE Select	ENSP00000478141.1:p.Cys323ProfsTer23
NM_001281520.1:c.966_970del	NP_001268449.1:p.Cys323ProfsTer23
NM_001281521.1:c.966_970del	NP_001268450.1:p.Cys323ProfsTer23
NM_001281522.1:c.966_970del	NP_001268451.1:p.Cys323ProfsTer23
NM_032485.5:c.966_970del	NP_115874.3:p.Cys323ProfsTer23
NM_182802.2:c.966_970del	NP_877954.1:p.Cys323ProfsTer23
XM_011529387.1:c.966_970del	XP_011527689.1:p.Cys323ProfsTer23
XR_937169.1:n.1306_1310del
XM_011529387.2:c.966_970del	XP_011527689.1:p.Cys323ProfsTer23
XM_017028105.1:c.966_970del	XP_016883594.1:p.Cys323ProfsTer23
XM_017028106.1:c.774_778del	XP_016883595.1:p.Cys259ProfsTer23
XM_017028107.1:c.117_121del	XP_016883596.1:p.Cys40ProfsTer23
XR_001754422.1:n.1306_1310del
XR_001754423.1:n.1306_1310del
NM_032485.6:c.966_970del MANE Select	NP_115874.3:p.Cys323ProfsTer23
NM_182802.3:c.966_970del	NP_877954.1:p.Cys323ProfsTer23
NM_001281520.2:c.966_970del	NP_001268449.1:p.Cys323ProfsTer23
NM_001281521.2:c.966_970del	NP_001268450.1:p.Cys323ProfsTer23
NM_001281522.2:c.966_970del	NP_001268451.1:p.Cys323ProfsTer23