Canonical Allele Identifier: CA358352
Gene: MCM8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.5977950_5977951insTA , CM000682.2:g.5977950_5977951insTA GRCh38
NC_000020.10:g.5958596_5958597insTA , CM000682.1:g.5958596_5958597insTA GRCh37
NC_000020.9:g.5906596_5906597insTA NCBI36
NG_042869.1:g.32299_32300insTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000652720.1:c.1470_1471insTA ENSP00000498784.1:p.Leu491TyrfsTer?
ENST00000265187.4:c.1422_1423insTA ENSP00000265187.4:p.Leu475TyrfsTer?
ENST00000378883.5:c.1329_1330insTA ENSP00000368161.1:p.Leu444TyrfsTer?
ENST00000378886.6:c.1590_1591insTA ENSP00000368164.2:p.Leu531TyrfsTer?
ENST00000378896.7:c.1470_1471insTA ENSP00000368174.3:p.Leu491TyrfsTer?
ENST00000610722.4:c.1470_1471insTA MANE Select ENSP00000478141.1:p.Leu491TyrfsTer?
NM_001281520.1:c.1470_1471insTA NP_001268449.1:p.Leu491TyrfsTer?
NM_001281521.1:c.1590_1591insTA NP_001268450.1:p.Leu531TyrfsTer?
NM_001281522.1:c.1329_1330insTA NP_001268451.1:p.Leu444TyrfsTer?
NM_032485.5:c.1470_1471insTA NP_115874.3:p.Leu491TyrfsTer?
NM_182802.2:c.1422_1423insTA NP_877954.1:p.Leu475TyrfsTer?
XM_011529387.1:c.1470_1471insTA XP_011527689.1:p.Leu491TyrfsTer?
XR_937169.1:n.1901_1902insTA
XM_011529387.2:c.1470_1471insTA XP_011527689.1:p.Leu491TyrfsTer?
XM_017028105.1:c.1590_1591insTA XP_016883594.1:p.Leu531TyrfsTer?
XM_017028106.1:c.1278_1279insTA XP_016883595.1:p.Leu427TyrfsTer?
XM_017028107.1:c.621_622insTA XP_016883596.1:p.Leu208TyrfsTer?
XR_001754422.1:n.1901_1902insTA
XR_001754423.1:n.1638_1639insTA
NM_032485.6:c.1470_1471insTA MANE Select NP_115874.3:p.Leu491TyrfsTer?
NM_182802.3:c.1422_1423insTA NP_877954.1:p.Leu475TyrfsTer?
NM_001281520.2:c.1470_1471insTA NP_001268449.1:p.Leu491TyrfsTer?
NM_001281521.2:c.1590_1591insTA NP_001268450.1:p.Leu531TyrfsTer?
NM_001281522.2:c.1329_1330insTA NP_001268451.1:p.Leu444TyrfsTer?