Canonical Allele Identifier: CA311223831

Gene: MCM8

Linked Data

• dbSNP Id: rs144737462
• gnomAD v2: 20-5948169-T-TAA
• gnomAD v4: 20-5967523-T-TAA
• MyVariant Identifiers: chr20:g.5948169_5948170insAA (hg19) ; chr20:g.5967523_5967524insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.5967524_5967525insAA , CM000682.2:g.5967524_5967525insAA	GRCh38
NC_000020.10:g.5948170_5948171insAA , CM000682.1:g.5948170_5948171insAA	GRCh37
NC_000020.9:g.5896170_5896171insAA	NCBI36
NG_042869.1:g.21873_21874insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652720.1:c.964_965insAA	ENSP00000498784.1:p.Ser322LysfsTer9
ENST00000265187.4:c.964_965insAA	ENSP00000265187.4:p.Ser322LysfsTer9
ENST00000378883.5:c.964_965insAA	ENSP00000368161.1:p.Ser322LysfsTer9
ENST00000378886.6:c.964_965insAA	ENSP00000368164.2:p.Ser322LysfsTer9
ENST00000378896.7:c.964_965insAA	ENSP00000368174.3:p.Ser322LysfsTer9
ENST00000610722.4:c.964_965insAA MANE Select	ENSP00000478141.1:p.Ser322LysfsTer9
NM_001281520.1:c.964_965insAA	NP_001268449.1:p.Ser322LysfsTer9
NM_001281521.1:c.964_965insAA	NP_001268450.1:p.Ser322LysfsTer9
NM_001281522.1:c.964_965insAA	NP_001268451.1:p.Ser322LysfsTer9
NM_032485.5:c.964_965insAA	NP_115874.3:p.Ser322LysfsTer9
NM_182802.2:c.964_965insAA	NP_877954.1:p.Ser322LysfsTer9
XM_011529387.1:c.964_965insAA	XP_011527689.1:p.Ser322LysfsTer9
XR_937169.1:n.1304_1305insAA
XM_011529387.2:c.964_965insAA	XP_011527689.1:p.Ser322LysfsTer9
XM_017028105.1:c.964_965insAA	XP_016883594.1:p.Ser322LysfsTer9
XM_017028106.1:c.772_773insAA	XP_016883595.1:p.Ser258LysfsTer9
XM_017028107.1:c.115_116insAA	XP_016883596.1:p.Ser39LysfsTer9
XR_001754422.1:n.1304_1305insAA
XR_001754423.1:n.1304_1305insAA
NM_032485.6:c.964_965insAA MANE Select	NP_115874.3:p.Ser322LysfsTer9
NM_182802.3:c.964_965insAA	NP_877954.1:p.Ser322LysfsTer9
NM_001281520.2:c.964_965insAA	NP_001268449.1:p.Ser322LysfsTer9
NM_001281521.2:c.964_965insAA	NP_001268450.1:p.Ser322LysfsTer9
NM_001281522.2:c.964_965insAA	NP_001268451.1:p.Ser322LysfsTer9