Canonical Allele Identifier: CA2651839753

Gene: MCM8

Linked Data

• gnomAD v4: 20-5967530-GTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.5967531_5967532del , CM000682.2:g.5967531_5967532del	GRCh38
NC_000020.10:g.5948177_5948178del , CM000682.1:g.5948177_5948178del	GRCh37
NC_000020.9:g.5896177_5896178del	NCBI36
NG_042869.1:g.21880_21881del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652720.1:c.971_972del	ENSP00000498784.1:p.Val324AlafsTer23
ENST00000265187.4:c.971_972del	ENSP00000265187.4:p.Val324AlafsTer23
ENST00000378883.5:c.971_972del	ENSP00000368161.1:p.Val324AlafsTer23
ENST00000378886.6:c.971_972del	ENSP00000368164.2:p.Val324AlafsTer23
ENST00000378896.7:c.971_972del	ENSP00000368174.3:p.Val324AlafsTer23
ENST00000610722.4:c.971_972del MANE Select	ENSP00000478141.1:p.Val324AlafsTer23
NM_001281520.1:c.971_972del	NP_001268449.1:p.Val324AlafsTer23
NM_001281521.1:c.971_972del	NP_001268450.1:p.Val324AlafsTer23
NM_001281522.1:c.971_972del	NP_001268451.1:p.Val324AlafsTer23
NM_032485.5:c.971_972del	NP_115874.3:p.Val324AlafsTer23
NM_182802.2:c.971_972del	NP_877954.1:p.Val324AlafsTer23
XM_011529387.1:c.971_972del	XP_011527689.1:p.Val324AlafsTer23
XR_937169.1:n.1311_1312del
XM_011529387.2:c.971_972del	XP_011527689.1:p.Val324AlafsTer23
XM_017028105.1:c.971_972del	XP_016883594.1:p.Val324AlafsTer23
XM_017028106.1:c.779_780del	XP_016883595.1:p.Val260AlafsTer23
XM_017028107.1:c.122_123del	XP_016883596.1:p.Val41AlafsTer23
XR_001754422.1:n.1311_1312del
XR_001754423.1:n.1311_1312del
NM_032485.6:c.971_972del MANE Select	NP_115874.3:p.Val324AlafsTer23
NM_182802.3:c.971_972del	NP_877954.1:p.Val324AlafsTer23
NM_001281520.2:c.971_972del	NP_001268449.1:p.Val324AlafsTer23
NM_001281521.2:c.971_972del	NP_001268450.1:p.Val324AlafsTer23
NM_001281522.2:c.971_972del	NP_001268451.1:p.Val324AlafsTer23