Canonical Allele Identifier: CA311225387

Gene: MCM8

Linked Data

• dbSNP Id: rs1056431052
• gnomAD v3: 20-5969050-AATTTCCCCTTT-A
• gnomAD v4: 20-5969050-AATTTCCCCTTT-A
• MyVariant Identifiers: chr20:g.5949697_5949707del (hg19) ; chr20:g.5969051_5969061del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.5969055_5969065del , CM000682.2:g.5969055_5969065del	GRCh38
NC_000020.10:g.5949701_5949711del , CM000682.1:g.5949701_5949711del	GRCh37
NC_000020.9:g.5897701_5897711del	NCBI36
NG_042869.1:g.23404_23414del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652720.1:c.1223+1030_1223+1040del	ENSP00000498784.1:n.1223+1030_1223+1040del
ENST00000265187.4:c.1175+1030_1175+1040del	ENSP00000265187.4:n.1175+1030_1175+1040del
ENST00000378883.5:c.1223+1030_1223+1040del	ENSP00000368161.1:n.1223+1030_1223+1040del
ENST00000378886.6:c.1223+1030_1223+1040del	ENSP00000368164.2:n.1223+1030_1223+1040del
ENST00000378896.7:c.1223+1030_1223+1040del	ENSP00000368174.3:n.1223+1030_1223+1040del
ENST00000610722.4:c.1223+1030_1223+1040del MANE Select	ENSP00000478141.1:n.1223+1030_1223+1040del
NM_001281520.1:c.1223+1030_1223+1040del	NP_001268449.1:n.1223+1030_1223+1040del
NM_001281521.1:c.1223+1030_1223+1040del	NP_001268450.1:n.1223+1030_1223+1040del
NM_001281522.1:c.1223+1030_1223+1040del	NP_001268451.1:n.1223+1030_1223+1040del
NM_032485.5:c.1223+1030_1223+1040del	NP_115874.3:n.1223+1030_1223+1040del
NM_182802.2:c.1175+1030_1175+1040del	NP_877954.1:n.1175+1030_1175+1040del
XM_011529387.1:c.1223+1030_1223+1040del	XP_011527689.1:n.1223+1030_1223+1040del
XR_937169.1:n.1563+1030_1563+1040del
XM_011529387.2:c.1223+1030_1223+1040del	XP_011527689.1:n.1223+1030_1223+1040del
XM_017028105.1:c.1223+1030_1223+1040del	XP_016883594.1:n.1223+1030_1223+1040del
XM_017028106.1:c.1031+1030_1031+1040del	XP_016883595.1:n.1031+1030_1031+1040del
XM_017028107.1:c.374+1030_374+1040del	XP_016883596.1:n.374+1030_374+1040del
XR_001754422.1:n.1563+1030_1563+1040del
XR_001754423.1:n.1563+1030_1563+1040del
NM_032485.6:c.1223+1030_1223+1040del MANE Select	NP_115874.3:n.1223+1030_1223+1040del
NM_182802.3:c.1175+1030_1175+1040del	NP_877954.1:n.1175+1030_1175+1040del
NM_001281520.2:c.1223+1030_1223+1040del	NP_001268449.1:n.1223+1030_1223+1040del
NM_001281521.2:c.1223+1030_1223+1040del	NP_001268450.1:n.1223+1030_1223+1040del
NM_001281522.2:c.1223+1030_1223+1040del	NP_001268451.1:n.1223+1030_1223+1040del