Canonical Allele Identifier: CA2740093129
Community Standard Title: NM_002180.3(IGHMBP2):c.1670del (p.Pro557LeufsTer19)
Gene: IGHMBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68935336del , CM000673.2:g.68935336del GRCh38
NC_000011.9:g.68702804del , CM000673.1:g.68702804del GRCh37
NC_000011.8:g.68459380del NCBI36
NG_007976.1:g.36486del , LRG_250:g.36486del

Transcript Alleles

HGVS Amino-acid Change
NM_002180.3:c.1670del MANE Select NP_002171.2:p.Pro557LeufsTer19
ENST00000255078.8:c.1670del MANE Select ENSP00000255078.4:p.Pro557LeufsTer19
NM_002180.2:c.1670del , LRG_250t1:c.1670del NP_002171.2:p.Pro557LeufsTer19
ENST00000255078.7:c.1670del ENSP00000255078.3:p.Pro557LeufsTer19
ENST00000539064.5:n.1429del
ENST00000541229.5:n.365del
ENST00000543739.5:n.749+778del
ENST00000545475.1:n.266del
ENST00000674955.1:c.*387del ENSP00000502463.1:n.*387del
ENST00000675118.1:c.1158del
ENST00000675615.1:c.1670del ENSP00000502413.1:p.Pro557LeufsTer19
ENST00000675648.1:n.1045del
ENST00000676173.1:n.2415del
ENST00000676182.1:c.101del
ENST00000676228.1:c.*993del ENSP00000502375.1:n.*993del
XM_005273974.2:c.659del XP_005274031.1:p.Pro220LeufsTer19
XM_005273975.2:c.542del XP_005274032.1:p.Pro181LeufsTer19
XM_005273975.3:c.542del XP_005274032.1:p.Pro181LeufsTer19
XM_011544994.1:c.437del XP_011543296.1:p.Pro146LeufsTer19
XM_017017669.2:c.659del XP_016873158.1:p.Pro220LeufsTer19
XM_017017670.2:c.659del XP_016873159.1:p.Pro220LeufsTer19
XM_017017671.2:c.1638del XP_016873160.1:p.Ter547GluextTer?
XR_949903.1:n.1772del
XR_949903.3:n.1768del