Canonical Allele Identifier: CA9756642

Gene: MCM8

Linked Data

• dbSNP Id: rs144737462
• ExAC: 20:5948169 T / TAAA
• MyVariant Identifiers: chr20:g.5948169_5948170insAAA (hg19) ; chr20:g.5967523_5967524insAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.5967524_5967525insAAA , CM000682.2:g.5967524_5967525insAAA	GRCh38
NC_000020.10:g.5948170_5948171insAAA , CM000682.1:g.5948170_5948171insAAA	GRCh37
NC_000020.9:g.5896170_5896171insAAA	NCBI36
NG_042869.1:g.21873_21874insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652720.1:c.964_965insAAA	ENSP00000498784.1:p.Asp321_Ser322insLys
ENST00000265187.4:c.964_965insAAA	ENSP00000265187.4:p.Asp321_Ser322insLys
ENST00000378883.5:c.964_965insAAA	ENSP00000368161.1:p.Asp321_Ser322insLys
ENST00000378886.6:c.964_965insAAA	ENSP00000368164.2:p.Asp321_Ser322insLys
ENST00000378896.7:c.964_965insAAA	ENSP00000368174.3:p.Asp321_Ser322insLys
ENST00000610722.4:c.964_965insAAA MANE Select	ENSP00000478141.1:p.Asp321_Ser322insLys
NM_001281520.1:c.964_965insAAA	NP_001268449.1:p.Asp321_Ser322insLys
NM_001281521.1:c.964_965insAAA	NP_001268450.1:p.Asp321_Ser322insLys
NM_001281522.1:c.964_965insAAA	NP_001268451.1:p.Asp321_Ser322insLys
NM_032485.5:c.964_965insAAA	NP_115874.3:p.Asp321_Ser322insLys
NM_182802.2:c.964_965insAAA	NP_877954.1:p.Asp321_Ser322insLys
XM_011529387.1:c.964_965insAAA	XP_011527689.1:p.Asp321_Ser322insLys
XR_937169.1:n.1304_1305insAAA
XM_011529387.2:c.964_965insAAA	XP_011527689.1:p.Asp321_Ser322insLys
XM_017028105.1:c.964_965insAAA	XP_016883594.1:p.Asp321_Ser322insLys
XM_017028106.1:c.772_773insAAA	XP_016883595.1:p.Asp257_Ser258insLys
XM_017028107.1:c.115_116insAAA	XP_016883596.1:p.Asp38_Ser39insLys
XR_001754422.1:n.1304_1305insAAA
XR_001754423.1:n.1304_1305insAAA
NM_032485.6:c.964_965insAAA MANE Select	NP_115874.3:p.Asp321_Ser322insLys
NM_182802.3:c.964_965insAAA	NP_877954.1:p.Asp321_Ser322insLys
NM_001281520.2:c.964_965insAAA	NP_001268449.1:p.Asp321_Ser322insLys
NM_001281521.2:c.964_965insAAA	NP_001268450.1:p.Asp321_Ser322insLys
NM_001281522.2:c.964_965insAAA	NP_001268451.1:p.Asp321_Ser322insLys