Canonical Allele Identifier: CA2651839754

Gene: MCM8

Linked Data

• gnomAD v4: 20-5967551-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.5967553dup , CM000682.2:g.5967553dup	GRCh38
NC_000020.10:g.5948199dup , CM000682.1:g.5948199dup	GRCh37
NC_000020.9:g.5896199dup	NCBI36
NG_042869.1:g.21902dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652720.1:c.993dup	ENSP00000498784.1:p.Thr332TyrfsTer16
ENST00000265187.4:c.993dup	ENSP00000265187.4:p.Thr332TyrfsTer16
ENST00000378883.5:c.993dup	ENSP00000368161.1:p.Thr332TyrfsTer16
ENST00000378886.6:c.993dup	ENSP00000368164.2:p.Thr332TyrfsTer16
ENST00000378896.7:c.993dup	ENSP00000368174.3:p.Thr332TyrfsTer16
ENST00000610722.4:c.993dup MANE Select	ENSP00000478141.1:p.Thr332TyrfsTer16
NM_001281520.1:c.993dup	NP_001268449.1:p.Thr332TyrfsTer16
NM_001281521.1:c.993dup	NP_001268450.1:p.Thr332TyrfsTer16
NM_001281522.1:c.993dup	NP_001268451.1:p.Thr332TyrfsTer16
NM_032485.5:c.993dup	NP_115874.3:p.Thr332TyrfsTer16
NM_182802.2:c.993dup	NP_877954.1:p.Thr332TyrfsTer16
XM_011529387.1:c.993dup	XP_011527689.1:p.Thr332TyrfsTer16
XR_937169.1:n.1333dup
XM_011529387.2:c.993dup	XP_011527689.1:p.Thr332TyrfsTer16
XM_017028105.1:c.993dup	XP_016883594.1:p.Thr332TyrfsTer16
XM_017028106.1:c.801dup	XP_016883595.1:p.Thr268TyrfsTer16
XM_017028107.1:c.144dup	XP_016883596.1:p.Thr49TyrfsTer16
XR_001754422.1:n.1333dup
XR_001754423.1:n.1333dup
NM_032485.6:c.993dup MANE Select	NP_115874.3:p.Thr332TyrfsTer16
NM_182802.3:c.993dup	NP_877954.1:p.Thr332TyrfsTer16
NM_001281520.2:c.993dup	NP_001268449.1:p.Thr332TyrfsTer16
NM_001281521.2:c.993dup	NP_001268450.1:p.Thr332TyrfsTer16
NM_001281522.2:c.993dup	NP_001268451.1:p.Thr332TyrfsTer16